SNP Links for Protein (Select 11034811) - SNP

Links from Protein

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Select item 14906474691.

rs1490647469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:11364837 (GRCh38)
5:11364949 (GRCh37)
Canonical SPDI:: NC_000005.10:11364836:G:A
Gene:: CTNND2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.11364837G>A, NC_000005.9:g.11364949G>A, NG_023544.2:g.544162C>T, NM_001332.4:c.1231C>T, NM_001332.3:c.1231C>T, NM_001332.2:c.1231C>T, NR_109988.2:n.1086C>T, NR_109988.1:n.683C>T, NM_001288717.2:c.-69C>T, NM_001288717.1:c.-69C>T, NM_001364128.2:c.220C>T, NM_001364128.1:c.220C>T, NM_001288715.1:c.958C>T, NM_001288716.1:c.220C>T, XM_005248251.4:c.1231C>T, XM_005248251.3:c.1231C>T, XM_005248251.2:c.1231C>T, XM_005248251.1:c.1231C>T, XM_011513967.3:c.958C>T, XM_011513967.2:c.958C>T, XM_011513967.1:c.958C>T, XM_005248253.2:c.958C>T, XM_005248253.1:c.958C>T, XM_017009072.2:c.493C>T, XM_017009072.1:c.493C>T, XM_017009074.2:c.493C>T, XM_017009074.1:c.493C>T, NP_001323.1:p.Arg411Trp, NP_001351057.1:p.Arg74Trp, NP_001275644.1:p.Arg320Trp, NP_001275645.1:p.Arg74Trp, XP_005248308.1:p.Arg411Trp, XP_011512269.1:p.Arg320Trp, XP_005248310.1:p.Arg320Trp, XP_016864561.1:p.Arg165Trp, XP_016864563.1:p.Arg165Trp

Select item 14905892772.

rs1490589277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:11117502 (GRCh38)
5:11117614 (GRCh37)
Canonical SPDI:: NC_000005.10:11117501:G:C
Gene:: CTNND2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0049/9 (Korea1K)
HGVS:: NC_000005.10:g.11117502G>C, NC_000005.9:g.11117614G>C, NG_023544.2:g.791497C>G, NM_001332.4:c.2225C>G, NM_001332.3:c.2225C>G, NM_001332.2:c.2225C>G, NR_109988.2:n.2080C>G, NR_109988.1:n.1677C>G, NM_001288717.2:c.926C>G, NM_001288717.1:c.926C>G, NM_001364128.2:c.1214C>G, NM_001364128.1:c.1214C>G, NM_001288715.1:c.1952C>G, NM_001288716.1:c.1214C>G, XM_005248251.4:c.2225C>G, XM_005248251.3:c.2225C>G, XM_005248251.2:c.2225C>G, XM_005248251.1:c.2225C>G, XM_011513967.3:c.1952C>G, XM_011513967.2:c.1952C>G, XM_011513967.1:c.1952C>G, XM_005248253.2:c.1952C>G, XM_005248253.1:c.1952C>G, XM_017009072.2:c.1487C>G, XM_017009072.1:c.1487C>G, XM_017009074.2:c.1487C>G, XM_017009074.1:c.1487C>G, XM_047416777.1:c.554C>G, NP_001323.1:p.Ala742Gly, NP_001275646.1:p.Ala309Gly, NP_001351057.1:p.Ala405Gly, NP_001275644.1:p.Ala651Gly, NP_001275645.1:p.Ala405Gly, XP_005248308.1:p.Ala742Gly, XP_011512269.1:p.Ala651Gly, XP_005248310.1:p.Ala651Gly, XP_016864561.1:p.Ala496Gly, XP_016864563.1:p.Ala496Gly, XP_047272733.1:p.Ala185Gly

Select item 14873447103.

rs1487344710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:10992554 (GRCh38)
5:10992666 (GRCh37)
Canonical SPDI:: NC_000005.10:10992553:A:G
Gene:: CTNND2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.10992554A>G, NC_000005.9:g.10992666A>G, NG_023544.2:g.916445T>C, NM_001332.4:c.3208T>C, NM_001332.3:c.3208T>C, NM_001332.2:c.3208T>C, NR_109988.2:n.3138T>C, NR_109988.1:n.2735T>C, NM_001288717.2:c.1909T>C, NM_001288717.1:c.1909T>C, NM_001364128.2:c.2272T>C, NM_001364128.1:c.2272T>C, NM_001288715.1:c.2935T>C, NM_001288716.1:c.2197T>C, XM_005248251.4:c.3283T>C, XM_005248251.3:c.3283T>C, XM_005248251.2:c.3283T>C, XM_005248251.1:c.3283T>C, XM_011513967.3:c.3010T>C, XM_011513967.2:c.3010T>C, XM_011513967.1:c.3010T>C, XM_005248253.2:c.3010T>C, XM_005248253.1:c.3010T>C, XM_017009072.2:c.2545T>C, XM_017009072.1:c.2545T>C, XM_017009074.2:c.2470T>C, XM_017009074.1:c.2470T>C, XM_047416777.1:c.1612T>C, NP_001323.1:p.Ser1070Pro, NP_001275646.1:p.Ser637Pro, NP_001351057.1:p.Ser758Pro, NP_001275644.1:p.Ser979Pro, NP_001275645.1:p.Ser733Pro, XP_005248308.1:p.Ser1095Pro, XP_011512269.1:p.Ser1004Pro, XP_005248310.1:p.Ser1004Pro, XP_016864561.1:p.Ser849Pro, XP_016864563.1:p.Ser824Pro, XP_047272733.1:p.Ser538Pro

Select item 14868511694.

rs1486851169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:11159697 (GRCh38)
5:11159809 (GRCh37)
Canonical SPDI:: NC_000005.10:11159696:C:A
Gene:: CTNND2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.11159697C>A, NC_000005.9:g.11159809C>A, NG_023544.2:g.749302G>T, NM_001332.4:c.2038G>T, NM_001332.3:c.2038G>T, NM_001332.2:c.2038G>T, NR_109988.2:n.1893G>T, NR_109988.1:n.1490G>T, NM_001288717.2:c.739G>T, NM_001288717.1:c.739G>T, NM_001364128.2:c.1027G>T, NM_001364128.1:c.1027G>T, NM_001288715.1:c.1765G>T, NM_001288716.1:c.1027G>T, XM_005248251.4:c.2038G>T, XM_005248251.3:c.2038G>T, XM_005248251.2:c.2038G>T, XM_005248251.1:c.2038G>T, XM_011513967.3:c.1765G>T, XM_011513967.2:c.1765G>T, XM_011513967.1:c.1765G>T, XM_005248253.2:c.1765G>T, XM_005248253.1:c.1765G>T, XM_017009072.2:c.1300G>T, XM_017009072.1:c.1300G>T, XM_017009074.2:c.1300G>T, XM_017009074.1:c.1300G>T, XM_047416777.1:c.367G>T, NP_001323.1:p.Ala680Ser, NP_001275646.1:p.Ala247Ser, NP_001351057.1:p.Ala343Ser, NP_001275644.1:p.Ala589Ser, NP_001275645.1:p.Ala343Ser, XP_005248308.1:p.Ala680Ser, XP_011512269.1:p.Ala589Ser, XP_005248310.1:p.Ala589Ser, XP_016864561.1:p.Ala434Ser, XP_016864563.1:p.Ala434Ser, XP_047272733.1:p.Ala123Ser

Select item 14858651365.

rs1485865136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:11346545 (GRCh38)
5:11346657 (GRCh37)
Canonical SPDI:: NC_000005.10:11346544:G:A,NC_000005.10:11346544:G:T
Gene:: CTNND2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.11346545G>A, NC_000005.10:g.11346545G>T, NC_000005.9:g.11346657G>A, NC_000005.9:g.11346657G>T, NG_023544.2:g.562454C>T, NG_023544.2:g.562454C>A, NM_001332.4:c.1455C>T, NM_001332.4:c.1455C>A, NM_001332.3:c.1455C>T, NM_001332.3:c.1455C>A, NM_001332.2:c.1455C>T, NM_001332.2:c.1455C>A, NR_109988.2:n.1310C>T, NR_109988.2:n.1310C>A, NR_109988.1:n.907C>T, NR_109988.1:n.907C>A, NM_001288717.2:c.156C>T, NM_001288717.2:c.156C>A, NM_001288717.1:c.156C>T, NM_001288717.1:c.156C>A, NM_001364128.2:c.444C>T, NM_001364128.2:c.444C>A, NM_001364128.1:c.444C>T, NM_001364128.1:c.444C>A, NM_001288715.1:c.1182C>T, NM_001288715.1:c.1182C>A, NM_001288716.1:c.444C>T, NM_001288716.1:c.444C>A, XM_005248251.4:c.1455C>T, XM_005248251.4:c.1455C>A, XM_005248251.3:c.1455C>T, XM_005248251.3:c.1455C>A, XM_005248251.2:c.1455C>T, XM_005248251.2:c.1455C>A, XM_005248251.1:c.1455C>T, XM_005248251.1:c.1455C>A, XM_011513967.3:c.1182C>T, XM_011513967.3:c.1182C>A, XM_011513967.2:c.1182C>T, XM_011513967.2:c.1182C>A, XM_011513967.1:c.1182C>T, XM_011513967.1:c.1182C>A, XM_005248253.2:c.1182C>T, XM_005248253.2:c.1182C>A, XM_005248253.1:c.1182C>T, XM_005248253.1:c.1182C>A, XM_017009072.2:c.717C>T, XM_017009072.2:c.717C>A, XM_017009072.1:c.717C>T, XM_017009072.1:c.717C>A, XM_017009074.2:c.717C>T, XM_017009074.2:c.717C>A, XM_017009074.1:c.717C>T, XM_017009074.1:c.717C>A

Select item 14842963786.

rs1484296378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:11384737 (GRCh38)
5:11384849 (GRCh37)
Canonical SPDI:: NC_000005.10:11384736:A:G
Gene:: CTNND2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.11384737A>G, NC_000005.9:g.11384849A>G, NG_023544.2:g.524262T>C, NM_001332.4:c.1105T>C, NM_001332.3:c.1105T>C, NM_001332.2:c.1105T>C, NM_001288715.1:c.832T>C, XM_005248251.4:c.1105T>C, XM_005248251.3:c.1105T>C, XM_005248251.2:c.1105T>C, XM_005248251.1:c.1105T>C, XM_011513967.3:c.832T>C, XM_011513967.2:c.832T>C, XM_011513967.1:c.832T>C, XM_005248253.2:c.832T>C, XM_005248253.1:c.832T>C, NP_001323.1:p.Ser369Pro, NP_001275644.1:p.Ser278Pro, XP_005248308.1:p.Ser369Pro, XP_011512269.1:p.Ser278Pro, XP_005248310.1:p.Ser278Pro

Select item 14842470017.

rs1484247001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:11384926 (GRCh38)
5:11385038 (GRCh37)
Canonical SPDI:: NC_000005.10:11384925:G:A,NC_000005.10:11384925:G:T
Gene:: CTNND2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.11384926G>A, NC_000005.10:g.11384926G>T, NC_000005.9:g.11385038G>A, NC_000005.9:g.11385038G>T, NG_023544.2:g.524073C>T, NG_023544.2:g.524073C>A, NM_001332.4:c.916C>T, NM_001332.4:c.916C>A, NM_001332.3:c.916C>T, NM_001332.3:c.916C>A, NM_001332.2:c.916C>T, NM_001332.2:c.916C>A, NM_001288715.1:c.643C>T, NM_001288715.1:c.643C>A, XM_005248251.4:c.916C>T, XM_005248251.4:c.916C>A, XM_005248251.3:c.916C>T, XM_005248251.3:c.916C>A, XM_005248251.2:c.916C>T, XM_005248251.2:c.916C>A, XM_005248251.1:c.916C>T, XM_005248251.1:c.916C>A, XM_011513967.3:c.643C>T, XM_011513967.3:c.643C>A, XM_011513967.2:c.643C>T, XM_011513967.2:c.643C>A, XM_011513967.1:c.643C>T, XM_011513967.1:c.643C>A, XM_005248253.2:c.643C>T, XM_005248253.2:c.643C>A, XM_005248253.1:c.643C>T, XM_005248253.1:c.643C>A, NP_001323.1:p.Arg306Cys, NP_001323.1:p.Arg306Ser, NP_001275644.1:p.Arg215Cys, NP_001275644.1:p.Arg215Ser, XP_005248308.1:p.Arg306Cys, XP_005248308.1:p.Arg306Ser, XP_011512269.1:p.Arg215Cys, XP_011512269.1:p.Arg215Ser, XP_005248310.1:p.Arg215Cys, XP_005248310.1:p.Arg215Ser

Select item 14836775488.

rs1483677548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:11346568 (GRCh38)
5:11346680 (GRCh37)
Canonical SPDI:: NC_000005.10:11346567:G:A
Gene:: CTNND2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.11346568G>A, NC_000005.9:g.11346680G>A, NG_023544.2:g.562431C>T, NM_001332.4:c.1432C>T, NM_001332.3:c.1432C>T, NM_001332.2:c.1432C>T, NR_109988.2:n.1287C>T, NR_109988.1:n.884C>T, NM_001288717.2:c.133C>T, NM_001288717.1:c.133C>T, NM_001364128.2:c.421C>T, NM_001364128.1:c.421C>T, NM_001288715.1:c.1159C>T, NM_001288716.1:c.421C>T, XM_005248251.4:c.1432C>T, XM_005248251.3:c.1432C>T, XM_005248251.2:c.1432C>T, XM_005248251.1:c.1432C>T, XM_011513967.3:c.1159C>T, XM_011513967.2:c.1159C>T, XM_011513967.1:c.1159C>T, XM_005248253.2:c.1159C>T, XM_005248253.1:c.1159C>T, XM_017009072.2:c.694C>T, XM_017009072.1:c.694C>T, XM_017009074.2:c.694C>T, XM_017009074.1:c.694C>T, NP_001323.1:p.Pro478Ser, NP_001275646.1:p.Pro45Ser, NP_001351057.1:p.Pro141Ser, NP_001275644.1:p.Pro387Ser, NP_001275645.1:p.Pro141Ser, XP_005248308.1:p.Pro478Ser, XP_011512269.1:p.Pro387Ser, XP_005248310.1:p.Pro387Ser, XP_016864561.1:p.Pro232Ser, XP_016864563.1:p.Pro232Ser

Select item 14830104639.

rs1483010463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:11385201 (GRCh38)
5:11385313 (GRCh37)
Canonical SPDI:: NC_000005.10:11385200:G:A,NC_000005.10:11385200:G:C,NC_000005.10:11385200:G:T
Gene:: CTNND2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.11385201G>A, NC_000005.10:g.11385201G>C, NC_000005.10:g.11385201G>T, NC_000005.9:g.11385313G>A, NC_000005.9:g.11385313G>C, NC_000005.9:g.11385313G>T, NG_023544.2:g.523798C>T, NG_023544.2:g.523798C>G, NG_023544.2:g.523798C>A, NM_001332.4:c.641C>T, NM_001332.4:c.641C>G, NM_001332.4:c.641C>A, NM_001332.3:c.641C>T, NM_001332.3:c.641C>G, NM_001332.3:c.641C>A, NM_001332.2:c.641C>T, NM_001332.2:c.641C>G, NM_001332.2:c.641C>A, NM_001288715.1:c.368C>T, NM_001288715.1:c.368C>G, NM_001288715.1:c.368C>A, XM_005248251.4:c.641C>T, XM_005248251.4:c.641C>G, XM_005248251.4:c.641C>A, XM_005248251.3:c.641C>T, XM_005248251.3:c.641C>G, XM_005248251.3:c.641C>A, XM_005248251.2:c.641C>T, XM_005248251.2:c.641C>G, XM_005248251.2:c.641C>A, XM_005248251.1:c.641C>T, XM_005248251.1:c.641C>G, XM_005248251.1:c.641C>A, XM_011513967.3:c.368C>T, XM_011513967.3:c.368C>G, XM_011513967.3:c.368C>A, XM_011513967.2:c.368C>T, XM_011513967.2:c.368C>G, XM_011513967.2:c.368C>A, XM_011513967.1:c.368C>T, XM_011513967.1:c.368C>G, XM_011513967.1:c.368C>A, XM_005248253.2:c.368C>T, XM_005248253.2:c.368C>G, XM_005248253.2:c.368C>A, XM_005248253.1:c.368C>T, XM_005248253.1:c.368C>G, XM_005248253.1:c.368C>A, NP_001323.1:p.Ala214Val, NP_001323.1:p.Ala214Gly, NP_001323.1:p.Ala214Glu, NP_001275644.1:p.Ala123Val, NP_001275644.1:p.Ala123Gly, NP_001275644.1:p.Ala123Glu, XP_005248308.1:p.Ala214Val, XP_005248308.1:p.Ala214Gly, XP_005248308.1:p.Ala214Glu, XP_011512269.1:p.Ala123Val, XP_011512269.1:p.Ala123Gly, XP_011512269.1:p.Ala123Glu, XP_005248310.1:p.Ala123Val, XP_005248310.1:p.Ala123Gly, XP_005248310.1:p.Ala123Glu

Select item 148281093610.

rs1482810936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:11236730 (GRCh38)
5:11236842 (GRCh37)
Canonical SPDI:: NC_000005.10:11236729:C:T
Gene:: CTNND2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.11236730C>T, NC_000005.9:g.11236842C>T, NG_023544.2:g.672269G>A, NM_001332.4:c.1722G>A, NM_001332.3:c.1722G>A, NM_001332.2:c.1722G>A, NR_109988.2:n.1577G>A, NR_109988.1:n.1174G>A, NM_001288717.2:c.423G>A, NM_001288717.1:c.423G>A, NM_001364128.2:c.711G>A, NM_001364128.1:c.711G>A, NM_001288715.1:c.1449G>A, NM_001288716.1:c.711G>A, XM_005248251.4:c.1722G>A, XM_005248251.3:c.1722G>A, XM_005248251.2:c.1722G>A, XM_005248251.1:c.1722G>A, XM_011513967.3:c.1449G>A, XM_011513967.2:c.1449G>A, XM_011513967.1:c.1449G>A, XM_005248253.2:c.1449G>A, XM_005248253.1:c.1449G>A, XM_017009072.2:c.984G>A, XM_017009072.1:c.984G>A, XM_017009074.2:c.984G>A, XM_017009074.1:c.984G>A, XM_047416777.1:c.51G>A

Select item 148178801111.

rs1481788011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:11732199 (GRCh38)
5:11732311 (GRCh37)
Canonical SPDI:: NC_000005.10:11732198:G:A
Gene:: CTNND2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.11732199G>A, NC_000005.9:g.11732311G>A, NG_023544.2:g.176800C>T, NM_001332.4:c.111C>T, NM_001332.3:c.111C>T, NM_001332.2:c.111C>T, NR_109988.2:n.704C>T, NR_109988.1:n.301C>T, NM_001288717.2:c.-624C>T, NM_001288717.1:c.-624C>T, XM_005248251.4:c.111C>T, XM_005248251.3:c.111C>T, XM_005248251.2:c.111C>T, XM_005248251.1:c.111C>T, XM_017009072.2:c.111C>T, XM_017009072.1:c.111C>T, XM_017009074.2:c.111C>T, XM_017009074.1:c.111C>T

Select item 147974397912.

rs1479743979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:11346429 (GRCh38)
5:11346541 (GRCh37)
Canonical SPDI:: NC_000005.10:11346428:G:A
Gene:: CTNND2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000005.10:g.11346429G>A, NC_000005.9:g.11346541G>A, NG_023544.2:g.562570C>T, NM_001332.4:c.1571C>T, NM_001332.3:c.1571C>T, NM_001332.2:c.1571C>T, NR_109988.2:n.1426C>T, NR_109988.1:n.1023C>T, NM_001288717.2:c.272C>T, NM_001288717.1:c.272C>T, NM_001364128.2:c.560C>T, NM_001364128.1:c.560C>T, NM_001288715.1:c.1298C>T, NM_001288716.1:c.560C>T, XM_005248251.4:c.1571C>T, XM_005248251.3:c.1571C>T, XM_005248251.2:c.1571C>T, XM_005248251.1:c.1571C>T, XM_011513967.3:c.1298C>T, XM_011513967.2:c.1298C>T, XM_011513967.1:c.1298C>T, XM_005248253.2:c.1298C>T, XM_005248253.1:c.1298C>T, XM_017009072.2:c.833C>T, XM_017009072.1:c.833C>T, XM_017009074.2:c.833C>T, XM_017009074.1:c.833C>T, NP_001323.1:p.Pro524Leu, NP_001275646.1:p.Pro91Leu, NP_001351057.1:p.Pro187Leu, NP_001275644.1:p.Pro433Leu, NP_001275645.1:p.Pro187Leu, XP_005248308.1:p.Pro524Leu, XP_011512269.1:p.Pro433Leu, XP_005248310.1:p.Pro433Leu, XP_016864561.1:p.Pro278Leu, XP_016864563.1:p.Pro278Leu

Select item 147950892213.

rs1479508922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:11397098 (GRCh38)
5:11397210 (GRCh37)
Canonical SPDI:: NC_000005.10:11397097:T:C
Gene:: CTNND2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.11397098T>C, NC_000005.9:g.11397210T>C, NG_023544.2:g.511901A>G, NM_001332.4:c.545A>G, NM_001332.3:c.545A>G, NM_001332.2:c.545A>G, NM_001288717.2:c.-190A>G, NM_001288717.1:c.-190A>G, NM_001288715.1:c.272A>G, XM_005248251.4:c.545A>G, XM_005248251.3:c.545A>G, XM_005248251.2:c.545A>G, XM_005248251.1:c.545A>G, XM_011513967.3:c.272A>G, XM_011513967.2:c.272A>G, XM_011513967.1:c.272A>G, XM_005248253.2:c.272A>G, XM_005248253.1:c.272A>G, NP_001323.1:p.Glu182Gly, NP_001275644.1:p.Glu91Gly, XP_005248308.1:p.Glu182Gly, XP_011512269.1:p.Glu91Gly, XP_005248310.1:p.Glu91Gly

Select item 147813341014.

rs1478133410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:11385094 (GRCh38)
5:11385206 (GRCh37)
Canonical SPDI:: NC_000005.10:11385093:C:T
Gene:: CTNND2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.11385094C>T, NC_000005.9:g.11385206C>T, NG_023544.2:g.523905G>A, NM_001332.4:c.748G>A, NM_001332.3:c.748G>A, NM_001332.2:c.748G>A, NM_001288715.1:c.475G>A, XM_005248251.4:c.748G>A, XM_005248251.3:c.748G>A, XM_005248251.2:c.748G>A, XM_005248251.1:c.748G>A, XM_011513967.3:c.475G>A, XM_011513967.2:c.475G>A, XM_011513967.1:c.475G>A, XM_005248253.2:c.475G>A, XM_005248253.1:c.475G>A, NP_001323.1:p.Ala250Thr, NP_001275644.1:p.Ala159Thr, XP_005248308.1:p.Ala250Thr, XP_011512269.1:p.Ala159Thr, XP_005248310.1:p.Ala159Thr

Select item 147695178315.

rs1476951783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:11082747 (GRCh38)
5:11082859 (GRCh37)
Canonical SPDI:: NC_000005.10:11082746:C:T
Gene:: CTNND2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.11082747C>T, NC_000005.9:g.11082859C>T, NG_023544.2:g.826252G>A, NM_001332.4:c.2737G>A, NM_001332.3:c.2737G>A, NM_001332.2:c.2737G>A, NR_109988.2:n.2667G>A, NR_109988.1:n.2264G>A, NM_001288717.2:c.1438G>A, NM_001288717.1:c.1438G>A, NM_001364128.2:c.1801G>A, NM_001364128.1:c.1801G>A, NM_001288715.1:c.2464G>A, NM_001288716.1:c.1726G>A, XM_005248251.4:c.2812G>A, XM_005248251.3:c.2812G>A, XM_005248251.2:c.2812G>A, XM_005248251.1:c.2812G>A, XM_011513967.3:c.2539G>A, XM_011513967.2:c.2539G>A, XM_011513967.1:c.2539G>A, XM_005248253.2:c.2539G>A, XM_005248253.1:c.2539G>A, XM_017009072.2:c.2074G>A, XM_017009072.1:c.2074G>A, XM_017009074.2:c.1999G>A, XM_017009074.1:c.1999G>A, XM_047416777.1:c.1141G>A, NP_001323.1:p.Ala913Thr, NP_001275646.1:p.Ala480Thr, NP_001351057.1:p.Ala601Thr, NP_001275644.1:p.Ala822Thr, NP_001275645.1:p.Ala576Thr, XP_005248308.1:p.Ala938Thr, XP_011512269.1:p.Ala847Thr, XP_005248310.1:p.Ala847Thr, XP_016864561.1:p.Ala692Thr, XP_016864563.1:p.Ala667Thr, XP_047272733.1:p.Ala381Thr

Select item 147616442016.

rs1476164420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:11364810 (GRCh38)
5:11364922 (GRCh37)
Canonical SPDI:: NC_000005.10:11364809:T:C
Gene:: CTNND2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.11364810T>C, NC_000005.9:g.11364922T>C, NG_023544.2:g.544189A>G, NM_001332.4:c.1258A>G, NM_001332.3:c.1258A>G, NM_001332.2:c.1258A>G, NR_109988.2:n.1113A>G, NR_109988.1:n.710A>G, NM_001288717.2:c.-42A>G, NM_001288717.1:c.-42A>G, NM_001364128.2:c.247A>G, NM_001364128.1:c.247A>G, NM_001288715.1:c.985A>G, NM_001288716.1:c.247A>G, XM_005248251.4:c.1258A>G, XM_005248251.3:c.1258A>G, XM_005248251.2:c.1258A>G, XM_005248251.1:c.1258A>G, XM_011513967.3:c.985A>G, XM_011513967.2:c.985A>G, XM_011513967.1:c.985A>G, XM_005248253.2:c.985A>G, XM_005248253.1:c.985A>G, XM_017009072.2:c.520A>G, XM_017009072.1:c.520A>G, XM_017009074.2:c.520A>G, XM_017009074.1:c.520A>G, NP_001323.1:p.Ile420Val, NP_001351057.1:p.Ile83Val, NP_001275644.1:p.Ile329Val, NP_001275645.1:p.Ile83Val, XP_005248308.1:p.Ile420Val, XP_011512269.1:p.Ile329Val, XP_005248310.1:p.Ile329Val, XP_016864561.1:p.Ile174Val, XP_016864563.1:p.Ile174Val

Select item 147428222917.

rs1474282229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:10992611 (GRCh38)
5:10992723 (GRCh37)
Canonical SPDI:: NC_000005.10:10992610:A:G
Gene:: CTNND2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.10992611A>G, NC_000005.9:g.10992723A>G, NG_023544.2:g.916388T>C, NM_001332.4:c.3151T>C, NM_001332.3:c.3151T>C, NM_001332.2:c.3151T>C, NR_109988.2:n.3081T>C, NR_109988.1:n.2678T>C, NM_001288717.2:c.1852T>C, NM_001288717.1:c.1852T>C, NM_001364128.2:c.2215T>C, NM_001364128.1:c.2215T>C, NM_001288715.1:c.2878T>C, NM_001288716.1:c.2140T>C, XM_005248251.4:c.3226T>C, XM_005248251.3:c.3226T>C, XM_005248251.2:c.3226T>C, XM_005248251.1:c.3226T>C, XM_011513967.3:c.2953T>C, XM_011513967.2:c.2953T>C, XM_011513967.1:c.2953T>C, XM_005248253.2:c.2953T>C, XM_005248253.1:c.2953T>C, XM_017009072.2:c.2488T>C, XM_017009072.1:c.2488T>C, XM_017009074.2:c.2413T>C, XM_017009074.1:c.2413T>C, XM_047416777.1:c.1555T>C, NP_001323.1:p.Tyr1051His, NP_001275646.1:p.Tyr618His, NP_001351057.1:p.Tyr739His, NP_001275644.1:p.Tyr960His, NP_001275645.1:p.Tyr714His, XP_005248308.1:p.Tyr1076His, XP_011512269.1:p.Tyr985His, XP_005248310.1:p.Tyr985His, XP_016864561.1:p.Tyr830His, XP_016864563.1:p.Tyr805His, XP_047272733.1:p.Tyr519His

Select item 147374177118.

rs1473741771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:11397108 (GRCh38)
5:11397220 (GRCh37)
Canonical SPDI:: NC_000005.10:11397107:C:A,NC_000005.10:11397107:C:G
Gene:: CTNND2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.11397108C>A, NC_000005.10:g.11397108C>G, NC_000005.9:g.11397220C>A, NC_000005.9:g.11397220C>G, NG_023544.2:g.511891G>T, NG_023544.2:g.511891G>C, NM_001332.4:c.535G>T, NM_001332.4:c.535G>C, NM_001332.3:c.535G>T, NM_001332.3:c.535G>C, NM_001332.2:c.535G>T, NM_001332.2:c.535G>C, NM_001288717.2:c.-200G>T, NM_001288717.2:c.-200G>C, NM_001288717.1:c.-200G>T, NM_001288717.1:c.-200G>C, NM_001288715.1:c.262G>T, NM_001288715.1:c.262G>C, XM_005248251.4:c.535G>T, XM_005248251.4:c.535G>C, XM_005248251.3:c.535G>T, XM_005248251.3:c.535G>C, XM_005248251.2:c.535G>T, XM_005248251.2:c.535G>C, XM_005248251.1:c.535G>T, XM_005248251.1:c.535G>C, XM_011513967.3:c.262G>T, XM_011513967.3:c.262G>C, XM_011513967.2:c.262G>T, XM_011513967.2:c.262G>C, XM_011513967.1:c.262G>T, XM_011513967.1:c.262G>C, XM_005248253.2:c.262G>T, XM_005248253.2:c.262G>C, XM_005248253.1:c.262G>T, XM_005248253.1:c.262G>C, NP_001323.1:p.Ala179Ser, NP_001323.1:p.Ala179Pro, NP_001275644.1:p.Ala88Ser, NP_001275644.1:p.Ala88Pro, XP_005248308.1:p.Ala179Ser, XP_005248308.1:p.Ala179Pro, XP_011512269.1:p.Ala88Ser, XP_011512269.1:p.Ala88Pro, XP_005248310.1:p.Ala88Ser, XP_005248310.1:p.Ala88Pro

Select item 147227114019.

rs1472271140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:11385069 (GRCh38)
5:11385181 (GRCh37)
Canonical SPDI:: NC_000005.10:11385068:G:A,NC_000005.10:11385068:G:C
Gene:: CTNND2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.11385069G>A, NC_000005.10:g.11385069G>C, NC_000005.9:g.11385181G>A, NC_000005.9:g.11385181G>C, NG_023544.2:g.523930C>T, NG_023544.2:g.523930C>G, NM_001332.4:c.773C>T, NM_001332.4:c.773C>G, NM_001332.3:c.773C>T, NM_001332.3:c.773C>G, NM_001332.2:c.773C>T, NM_001332.2:c.773C>G, NM_001288715.1:c.500C>T, NM_001288715.1:c.500C>G, XM_005248251.4:c.773C>T, XM_005248251.4:c.773C>G, XM_005248251.3:c.773C>T, XM_005248251.3:c.773C>G, XM_005248251.2:c.773C>T, XM_005248251.2:c.773C>G, XM_005248251.1:c.773C>T, XM_005248251.1:c.773C>G, XM_011513967.3:c.500C>T, XM_011513967.3:c.500C>G, XM_011513967.2:c.500C>T, XM_011513967.2:c.500C>G, XM_011513967.1:c.500C>T, XM_011513967.1:c.500C>G, XM_005248253.2:c.500C>T, XM_005248253.2:c.500C>G, XM_005248253.1:c.500C>T, XM_005248253.1:c.500C>G, NP_001323.1:p.Thr258Met, NP_001323.1:p.Thr258Arg, NP_001275644.1:p.Thr167Met, NP_001275644.1:p.Thr167Arg, XP_005248308.1:p.Thr258Met, XP_005248308.1:p.Thr258Arg, XP_011512269.1:p.Thr167Met, XP_011512269.1:p.Thr167Arg, XP_005248310.1:p.Thr167Met, XP_005248310.1:p.Thr167Arg

Select item 147223707020.

rs1472237070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:11364817 (GRCh38)
5:11364929 (GRCh37)
Canonical SPDI:: NC_000005.10:11364816:T:C
Gene:: CTNND2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000005.10:g.11364817T>C, NC_000005.9:g.11364929T>C, NG_023544.2:g.544182A>G, NM_001332.4:c.1251A>G, NM_001332.3:c.1251A>G, NM_001332.2:c.1251A>G, NR_109988.2:n.1106A>G, NR_109988.1:n.703A>G, NM_001288717.2:c.-49A>G, NM_001288717.1:c.-49A>G, NM_001364128.2:c.240A>G, NM_001364128.1:c.240A>G, NM_001288715.1:c.978A>G, NM_001288716.1:c.240A>G, XM_005248251.4:c.1251A>G, XM_005248251.3:c.1251A>G, XM_005248251.2:c.1251A>G, XM_005248251.1:c.1251A>G, XM_011513967.3:c.978A>G, XM_011513967.2:c.978A>G, XM_011513967.1:c.978A>G, XM_005248253.2:c.978A>G, XM_005248253.1:c.978A>G, XM_017009072.2:c.513A>G, XM_017009072.1:c.513A>G, XM_017009074.2:c.513A>G, XM_017009074.1:c.513A>G

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