SNP Links for Protein (Select 387763591) - SNP

Select item 14877495541.

rs1487749554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:206176301 (GRCh38)
2:207041025 (GRCh37)
Canonical SPDI:: NC_000002.12:206176300:C:A,NC_000002.12:206176300:C:T
Gene:: CMKLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (ExAC)
T=0.000024/6 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
T=0.001027/3 (KOREAN)
HGVS:: NC_000002.12:g.206176301C>A, NC_000002.12:g.206176301C>T, NC_000002.11:g.207041025C>A, NC_000002.11:g.207041025C>T, NW_015495299.1:g.285319C>A, NW_015495299.1:g.285319C>T, NM_005279.4:c.947G>T, NM_005279.4:c.947G>A, NM_005279.3:c.947G>T, NM_005279.3:c.947G>A, NM_001261453.2:c.947G>T, NM_001261453.2:c.947G>A, NM_001261453.1:c.947G>T, NM_001261453.1:c.947G>A, NM_001261452.2:c.947G>T, NM_001261452.2:c.947G>A, NM_001261452.1:c.947G>T, NM_001261452.1:c.947G>A, NM_001098199.2:c.947G>T, NM_001098199.2:c.947G>A, NM_001098199.1:c.947G>T, NM_001098199.1:c.947G>A, XM_047443968.1:c.947G>T, XM_047443968.1:c.947G>A, NM_001261454.1:c.947G>T, NM_001261454.1:c.947G>A, NM_001261455.1:c.947G>T, NM_001261455.1:c.947G>A, NM_001389445.1:c.947G>T, NM_001389445.1:c.947G>A, NP_005270.2:p.Arg316Leu, NP_005270.2:p.Arg316Gln, NP_001248382.1:p.Arg316Leu, NP_001248382.1:p.Arg316Gln, NP_001248381.1:p.Arg316Leu, NP_001248381.1:p.Arg316Gln, NP_001091669.1:p.Arg316Leu, NP_001091669.1:p.Arg316Gln, XP_047299924.1:p.Arg316Leu, XP_047299924.1:p.Arg316Gln, NP_001248383.1:p.Arg316Leu, NP_001248383.1:p.Arg316Gln, NP_001248384.1:p.Arg316Leu, NP_001248384.1:p.Arg316Gln, NP_001376374.1:p.Arg316Leu, NP_001376374.1:p.Arg316Gln

Select item 14823543732.

rs1482354373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:206176452 (GRCh38)
2:207041176 (GRCh37)
Canonical SPDI:: NC_000002.12:206176451:T:C,NC_000002.12:206176451:T:G
Gene:: CMKLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.206176452T>C, NC_000002.12:g.206176452T>G, NC_000002.11:g.207041176T>C, NC_000002.11:g.207041176T>G, NW_015495299.1:g.285470T>C, NW_015495299.1:g.285470T>G, NM_005279.4:c.796A>G, NM_005279.4:c.796A>C, NM_005279.3:c.796A>G, NM_005279.3:c.796A>C, NM_001261453.2:c.796A>G, NM_001261453.2:c.796A>C, NM_001261453.1:c.796A>G, NM_001261453.1:c.796A>C, NM_001261452.2:c.796A>G, NM_001261452.2:c.796A>C, NM_001261452.1:c.796A>G, NM_001261452.1:c.796A>C, NM_001098199.2:c.796A>G, NM_001098199.2:c.796A>C, NM_001098199.1:c.796A>G, NM_001098199.1:c.796A>C, XM_047443968.1:c.796A>G, XM_047443968.1:c.796A>C, NM_001261454.1:c.796A>G, NM_001261454.1:c.796A>C, NM_001261455.1:c.796A>G, NM_001261455.1:c.796A>C, NM_001389445.1:c.796A>G, NM_001389445.1:c.796A>C, NP_005270.2:p.Ser266Gly, NP_005270.2:p.Ser266Arg, NP_001248382.1:p.Ser266Gly, NP_001248382.1:p.Ser266Arg, NP_001248381.1:p.Ser266Gly, NP_001248381.1:p.Ser266Arg, NP_001091669.1:p.Ser266Gly, NP_001091669.1:p.Ser266Arg, XP_047299924.1:p.Ser266Gly, XP_047299924.1:p.Ser266Arg, NP_001248383.1:p.Ser266Gly, NP_001248383.1:p.Ser266Arg, NP_001248384.1:p.Ser266Gly, NP_001248384.1:p.Ser266Arg, NP_001376374.1:p.Ser266Gly, NP_001376374.1:p.Ser266Arg

Select item 14821638203.

rs1482163820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:206176998 (GRCh38)
2:207041722 (GRCh37)
Canonical SPDI:: NC_000002.12:206176997:A:C
Gene:: CMKLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206176998A>C, NC_000002.11:g.207041722A>C, NW_015495299.1:g.286016A>C, NM_005279.4:c.250T>G, NM_005279.3:c.250T>G, NM_001261453.2:c.250T>G, NM_001261453.1:c.250T>G, NM_001261452.2:c.250T>G, NM_001261452.1:c.250T>G, NM_001098199.2:c.250T>G, NM_001098199.1:c.250T>G, XM_047443968.1:c.250T>G, NM_001261454.1:c.250T>G, NM_001261455.1:c.250T>G, NM_001389445.1:c.250T>G, NP_005270.2:p.Phe84Val, NP_001248382.1:p.Phe84Val, NP_001248381.1:p.Phe84Val, NP_001091669.1:p.Phe84Val, XP_047299924.1:p.Phe84Val, NP_001248383.1:p.Phe84Val, NP_001248384.1:p.Phe84Val, NP_001376374.1:p.Phe84Val

Select item 14787041974.

rs1478704197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206176294 (GRCh38)
2:207041018 (GRCh37)
Canonical SPDI:: NC_000002.12:206176293:T:C
Gene:: CMKLR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206176294T>C, NC_000002.11:g.207041018T>C, NW_015495299.1:g.285312T>C, NM_005279.4:c.954A>G, NM_005279.3:c.954A>G, NM_001261453.2:c.954A>G, NM_001261453.1:c.954A>G, NM_001261452.2:c.954A>G, NM_001261452.1:c.954A>G, NM_001098199.2:c.954A>G, NM_001098199.1:c.954A>G, XM_047443968.1:c.954A>G, NM_001261454.1:c.954A>G, NM_001261455.1:c.954A>G, NM_001389445.1:c.954A>G

Select item 14740692935.

rs1474069293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206177130 (GRCh38)
2:207041854 (GRCh37)
Canonical SPDI:: NC_000002.12:206177129:C:T
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.206177130C>T, NC_000002.11:g.207041854C>T, NW_015495299.1:g.286148C>T, NM_005279.4:c.118G>A, NM_005279.3:c.118G>A, NM_001261453.2:c.118G>A, NM_001261453.1:c.118G>A, NM_001261452.2:c.118G>A, NM_001261452.1:c.118G>A, NM_001098199.2:c.118G>A, NM_001098199.1:c.118G>A, XM_047443968.1:c.118G>A, NM_001261454.1:c.118G>A, NM_001261455.1:c.118G>A, NM_001389445.1:c.118G>A, NP_005270.2:p.Val40Ile, NP_001248382.1:p.Val40Ile, NP_001248381.1:p.Val40Ile, NP_001091669.1:p.Val40Ile, XP_047299924.1:p.Val40Ile, NP_001248383.1:p.Val40Ile, NP_001248384.1:p.Val40Ile, NP_001376374.1:p.Val40Ile

Select item 14724886596.

rs1472488659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:206176581 (GRCh38)
2:207041305 (GRCh37)
Canonical SPDI:: NC_000002.12:206176580:T:A
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206176581T>A, NC_000002.11:g.207041305T>A, NW_015495299.1:g.285599T>A, NM_005279.4:c.667A>T, NM_005279.3:c.667A>T, NM_001261453.2:c.667A>T, NM_001261453.1:c.667A>T, NM_001261452.2:c.667A>T, NM_001261452.1:c.667A>T, NM_001098199.2:c.667A>T, NM_001098199.1:c.667A>T, XM_047443968.1:c.667A>T, NM_001261454.1:c.667A>T, NM_001261455.1:c.667A>T, NM_001389445.1:c.667A>T, NP_005270.2:p.Ser223Cys, NP_001248382.1:p.Ser223Cys, NP_001248381.1:p.Ser223Cys, NP_001091669.1:p.Ser223Cys, XP_047299924.1:p.Ser223Cys, NP_001248383.1:p.Ser223Cys, NP_001248384.1:p.Ser223Cys, NP_001376374.1:p.Ser223Cys

Select item 14716464617.

rs1471646461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206176910 (GRCh38)
2:207041634 (GRCh37)
Canonical SPDI:: NC_000002.12:206176909:T:C
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.206176910T>C, NC_000002.11:g.207041634T>C, NW_015495299.1:g.285928T>C, NM_005279.4:c.338A>G, NM_005279.3:c.338A>G, NM_001261453.2:c.338A>G, NM_001261453.1:c.338A>G, NM_001261452.2:c.338A>G, NM_001261452.1:c.338A>G, NM_001098199.2:c.338A>G, NM_001098199.1:c.338A>G, XM_047443968.1:c.338A>G, NM_001261454.1:c.338A>G, NM_001261455.1:c.338A>G, NM_001389445.1:c.338A>G, NP_005270.2:p.Asn113Ser, NP_001248382.1:p.Asn113Ser, NP_001248381.1:p.Asn113Ser, NP_001091669.1:p.Asn113Ser, XP_047299924.1:p.Asn113Ser, NP_001248383.1:p.Asn113Ser, NP_001248384.1:p.Asn113Ser, NP_001376374.1:p.Asn113Ser

Select item 14694939218.

rs1469493921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206176951 (GRCh38)
2:207041675 (GRCh37)
Canonical SPDI:: NC_000002.12:206176950:C:T
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.206176951C>T, NC_000002.11:g.207041675C>T, NW_015495299.1:g.285969C>T, NM_005279.4:c.297G>A, NM_005279.3:c.297G>A, NM_001261453.2:c.297G>A, NM_001261453.1:c.297G>A, NM_001261452.2:c.297G>A, NM_001261452.1:c.297G>A, NM_001098199.2:c.297G>A, NM_001098199.1:c.297G>A, XM_047443968.1:c.297G>A, NM_001261454.1:c.297G>A, NM_001261455.1:c.297G>A, NM_001389445.1:c.297G>A, NP_005270.2:p.Met99Ile, NP_001248382.1:p.Met99Ile, NP_001248381.1:p.Met99Ile, NP_001091669.1:p.Met99Ile, XP_047299924.1:p.Met99Ile, NP_001248383.1:p.Met99Ile, NP_001248384.1:p.Met99Ile, NP_001376374.1:p.Met99Ile

Select item 14689916279.

rs1468991627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206177151 (GRCh38)
2:207041875 (GRCh37)
Canonical SPDI:: NC_000002.12:206177150:G:A
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206177151G>A, NC_000002.11:g.207041875G>A, NW_015495299.1:g.286169G>A, NM_005279.4:c.97C>T, NM_005279.3:c.97C>T, NM_001261453.2:c.97C>T, NM_001261453.1:c.97C>T, NM_001261452.2:c.97C>T, NM_001261452.1:c.97C>T, NM_001098199.2:c.97C>T, NM_001098199.1:c.97C>T, XM_047443968.1:c.97C>T, NM_001261454.1:c.97C>T, NM_001261455.1:c.97C>T, NM_001389445.1:c.97C>T, NP_005270.2:p.Gln33Ter, NP_001248382.1:p.Gln33Ter, NP_001248381.1:p.Gln33Ter, NP_001091669.1:p.Gln33Ter, XP_047299924.1:p.Gln33Ter, NP_001248383.1:p.Gln33Ter, NP_001248384.1:p.Gln33Ter, NP_001376374.1:p.Gln33Ter

Select item 146769206110.

rs1467692061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206176827 (GRCh38)
2:207041551 (GRCh37)
Canonical SPDI:: NC_000002.12:206176826:G:A
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206176827G>A, NC_000002.11:g.207041551G>A, NW_015495299.1:g.285845G>A, NM_005279.4:c.421C>T, NM_005279.3:c.421C>T, NM_001261453.2:c.421C>T, NM_001261453.1:c.421C>T, NM_001261452.2:c.421C>T, NM_001261452.1:c.421C>T, NM_001098199.2:c.421C>T, NM_001098199.1:c.421C>T, XM_047443968.1:c.421C>T, NM_001261454.1:c.421C>T, NM_001261455.1:c.421C>T, NM_001389445.1:c.421C>T, NP_005270.2:p.His141Tyr, NP_001248382.1:p.His141Tyr, NP_001248381.1:p.His141Tyr, NP_001091669.1:p.His141Tyr, XP_047299924.1:p.His141Tyr, NP_001248383.1:p.His141Tyr, NP_001248384.1:p.His141Tyr, NP_001376374.1:p.His141Tyr

Select item 146658214611.

rs1466582146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206176812 (GRCh38)
2:207041536 (GRCh37)
Canonical SPDI:: NC_000002.12:206176811:G:A
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.206176812G>A, NC_000002.11:g.207041536G>A, NW_015495299.1:g.285830G>A, NM_005279.4:c.436C>T, NM_005279.3:c.436C>T, NM_001261453.2:c.436C>T, NM_001261453.1:c.436C>T, NM_001261452.2:c.436C>T, NM_001261452.1:c.436C>T, NM_001098199.2:c.436C>T, NM_001098199.1:c.436C>T, XM_047443968.1:c.436C>T, NM_001261454.1:c.436C>T, NM_001261455.1:c.436C>T, NM_001389445.1:c.436C>T, NP_005270.2:p.His146Tyr, NP_001248382.1:p.His146Tyr, NP_001248381.1:p.His146Tyr, NP_001091669.1:p.His146Tyr, XP_047299924.1:p.His146Tyr, NP_001248383.1:p.His146Tyr, NP_001248384.1:p.His146Tyr, NP_001376374.1:p.His146Tyr

Select item 145575274612.

rs1455752746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206176858 (GRCh38)
2:207041582 (GRCh37)
Canonical SPDI:: NC_000002.12:206176857:C:T
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.206176858C>T, NC_000002.11:g.207041582C>T, NW_015495299.1:g.285876C>T, NM_005279.4:c.390G>A, NM_005279.3:c.390G>A, NM_001261453.2:c.390G>A, NM_001261453.1:c.390G>A, NM_001261452.2:c.390G>A, NM_001261452.1:c.390G>A, NM_001098199.2:c.390G>A, NM_001098199.1:c.390G>A, XM_047443968.1:c.390G>A, NM_001261454.1:c.390G>A, NM_001261455.1:c.390G>A, NM_001389445.1:c.390G>A

Select item 145324503213.

rs1453245032 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:206176675 (GRCh38)
2:207041399 (GRCh37)
Canonical SPDI:: NC_000002.12:206176674:AAAA:AAA
Gene:: CMKLR2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.206176678del, NC_000002.11:g.207041402del, NW_015495299.1:g.285696del, NM_005279.4:c.573del, NM_005279.3:c.573del, NM_001261453.2:c.573del, NM_001261453.1:c.573del, NM_001261452.2:c.573del, NM_001261452.1:c.573del, NM_001098199.2:c.573del, NM_001098199.1:c.573del, XM_047443968.1:c.573del, NM_001261454.1:c.573del, NM_001261455.1:c.573del, NM_001389445.1:c.573del, NP_005270.2:p.Gln192fs, NP_001248382.1:p.Gln192fs, NP_001248381.1:p.Gln192fs, NP_001091669.1:p.Gln192fs, XP_047299924.1:p.Gln192fs, NP_001248383.1:p.Gln192fs, NP_001248384.1:p.Gln192fs, NP_001376374.1:p.Gln192fs

Select item 144936441514.

rs1449364415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:206176776 (GRCh38)
2:207041500 (GRCh37)
Canonical SPDI:: NC_000002.12:206176775:T:C,NC_000002.12:206176775:T:G
Gene:: CMKLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
C=0.000319/5 (TOMMO)
HGVS:: NC_000002.12:g.206176776T>C, NC_000002.12:g.206176776T>G, NC_000002.11:g.207041500T>C, NC_000002.11:g.207041500T>G, NW_015495299.1:g.285794T>C, NW_015495299.1:g.285794T>G, NM_005279.4:c.472A>G, NM_005279.4:c.472A>C, NM_005279.3:c.472A>G, NM_005279.3:c.472A>C, NM_001261453.2:c.472A>G, NM_001261453.2:c.472A>C, NM_001261453.1:c.472A>G, NM_001261453.1:c.472A>C, NM_001261452.2:c.472A>G, NM_001261452.2:c.472A>C, NM_001261452.1:c.472A>G, NM_001261452.1:c.472A>C, NM_001098199.2:c.472A>G, NM_001098199.2:c.472A>C, NM_001098199.1:c.472A>G, NM_001098199.1:c.472A>C, XM_047443968.1:c.472A>G, XM_047443968.1:c.472A>C, NM_001261454.1:c.472A>G, NM_001261454.1:c.472A>C, NM_001261455.1:c.472A>G, NM_001261455.1:c.472A>C, NM_001389445.1:c.472A>G, NM_001389445.1:c.472A>C, NP_005270.2:p.Ile158Val, NP_005270.2:p.Ile158Leu, NP_001248382.1:p.Ile158Val, NP_001248382.1:p.Ile158Leu, NP_001248381.1:p.Ile158Val, NP_001248381.1:p.Ile158Leu, NP_001091669.1:p.Ile158Val, NP_001091669.1:p.Ile158Leu, XP_047299924.1:p.Ile158Val, XP_047299924.1:p.Ile158Leu, NP_001248383.1:p.Ile158Val, NP_001248383.1:p.Ile158Leu, NP_001248384.1:p.Ile158Val, NP_001248384.1:p.Ile158Leu, NP_001376374.1:p.Ile158Val, NP_001376374.1:p.Ile158Leu

Select item 144371357115.

rs1443713571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206177046 (GRCh38)
2:207041770 (GRCh37)
Canonical SPDI:: NC_000002.12:206177045:T:C
Gene:: CMKLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.206177046T>C, NC_000002.11:g.207041770T>C, NW_015495299.1:g.286064T>C, NM_005279.4:c.202A>G, NM_005279.3:c.202A>G, NM_001261453.2:c.202A>G, NM_001261453.1:c.202A>G, NM_001261452.2:c.202A>G, NM_001261452.1:c.202A>G, NM_001098199.2:c.202A>G, NM_001098199.1:c.202A>G, XM_047443968.1:c.202A>G, NM_001261454.1:c.202A>G, NM_001261455.1:c.202A>G, NM_001389445.1:c.202A>G, NP_005270.2:p.Lys68Glu, NP_001248382.1:p.Lys68Glu, NP_001248381.1:p.Lys68Glu, NP_001091669.1:p.Lys68Glu, XP_047299924.1:p.Lys68Glu, NP_001248383.1:p.Lys68Glu, NP_001248384.1:p.Lys68Glu, NP_001376374.1:p.Lys68Glu

Select item 144149649116.

rs1441496491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:206177112 (GRCh38)
2:207041836 (GRCh37)
Canonical SPDI:: NC_000002.12:206177111:A:G
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206177112A>G, NC_000002.11:g.207041836A>G, NW_015495299.1:g.286130A>G, NM_005279.4:c.136T>C, NM_005279.3:c.136T>C, NM_001261453.2:c.136T>C, NM_001261453.1:c.136T>C, NM_001261452.2:c.136T>C, NM_001261452.1:c.136T>C, NM_001098199.2:c.136T>C, NM_001098199.1:c.136T>C, XM_047443968.1:c.136T>C, NM_001261454.1:c.136T>C, NM_001261455.1:c.136T>C, NM_001389445.1:c.136T>C, NP_005270.2:p.Cys46Arg, NP_001248382.1:p.Cys46Arg, NP_001248381.1:p.Cys46Arg, NP_001091669.1:p.Cys46Arg, XP_047299924.1:p.Cys46Arg, NP_001248383.1:p.Cys46Arg, NP_001248384.1:p.Cys46Arg, NP_001376374.1:p.Cys46Arg

Select item 144112097317.

rs1441120973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:206176565 (GRCh38)
2:207041289 (GRCh37)
Canonical SPDI:: NC_000002.12:206176564:C:A,NC_000002.12:206176564:C:T
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206176565C>A, NC_000002.12:g.206176565C>T, NC_000002.11:g.207041289C>A, NC_000002.11:g.207041289C>T, NW_015495299.1:g.285583C>A, NW_015495299.1:g.285583C>T, NM_005279.4:c.683G>T, NM_005279.4:c.683G>A, NM_005279.3:c.683G>T, NM_005279.3:c.683G>A, NM_001261453.2:c.683G>T, NM_001261453.2:c.683G>A, NM_001261453.1:c.683G>T, NM_001261453.1:c.683G>A, NM_001261452.2:c.683G>T, NM_001261452.2:c.683G>A, NM_001261452.1:c.683G>T, NM_001261452.1:c.683G>A, NM_001098199.2:c.683G>T, NM_001098199.2:c.683G>A, NM_001098199.1:c.683G>T, NM_001098199.1:c.683G>A, XM_047443968.1:c.683G>T, XM_047443968.1:c.683G>A, NM_001261454.1:c.683G>T, NM_001261454.1:c.683G>A, NM_001261455.1:c.683G>T, NM_001261455.1:c.683G>A, NM_001389445.1:c.683G>T, NM_001389445.1:c.683G>A, NP_005270.2:p.Cys228Phe, NP_005270.2:p.Cys228Tyr, NP_001248382.1:p.Cys228Phe, NP_001248382.1:p.Cys228Tyr, NP_001248381.1:p.Cys228Phe, NP_001248381.1:p.Cys228Tyr, NP_001091669.1:p.Cys228Phe, NP_001091669.1:p.Cys228Tyr, XP_047299924.1:p.Cys228Phe, XP_047299924.1:p.Cys228Tyr, NP_001248383.1:p.Cys228Phe, NP_001248383.1:p.Cys228Tyr, NP_001248384.1:p.Cys228Phe, NP_001248384.1:p.Cys228Tyr, NP_001376374.1:p.Cys228Phe, NP_001376374.1:p.Cys228Tyr

Select item 143951289918.

rs1439512899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:206177027 (GRCh38)
2:207041751 (GRCh37)
Canonical SPDI:: NC_000002.12:206177026:A:T
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206177027A>T, NC_000002.11:g.207041751A>T, NW_015495299.1:g.286045A>T, NM_005279.4:c.221T>A, NM_005279.3:c.221T>A, NM_001261453.2:c.221T>A, NM_001261453.1:c.221T>A, NM_001261452.2:c.221T>A, NM_001261452.1:c.221T>A, NM_001098199.2:c.221T>A, NM_001098199.1:c.221T>A, XM_047443968.1:c.221T>A, NM_001261454.1:c.221T>A, NM_001261455.1:c.221T>A, NM_001389445.1:c.221T>A, NP_005270.2:p.Leu74Gln, NP_001248382.1:p.Leu74Gln, NP_001248381.1:p.Leu74Gln, NP_001091669.1:p.Leu74Gln, XP_047299924.1:p.Leu74Gln, NP_001248383.1:p.Leu74Gln, NP_001248384.1:p.Leu74Gln, NP_001376374.1:p.Leu74Gln

Select item 143713323819.

rs1437133238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:206176439 (GRCh38)
2:207041163 (GRCh37)
Canonical SPDI:: NC_000002.12:206176438:A:G
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206176439A>G, NC_000002.11:g.207041163A>G, NW_015495299.1:g.285457A>G, NM_005279.4:c.809T>C, NM_005279.3:c.809T>C, NM_001261453.2:c.809T>C, NM_001261453.1:c.809T>C, NM_001261452.2:c.809T>C, NM_001261452.1:c.809T>C, NM_001098199.2:c.809T>C, NM_001098199.1:c.809T>C, XM_047443968.1:c.809T>C, NM_001261454.1:c.809T>C, NM_001261455.1:c.809T>C, NM_001389445.1:c.809T>C, NP_005270.2:p.Leu270Pro, NP_001248382.1:p.Leu270Pro, NP_001248381.1:p.Leu270Pro, NP_001091669.1:p.Leu270Pro, XP_047299924.1:p.Leu270Pro, NP_001248383.1:p.Leu270Pro, NP_001248384.1:p.Leu270Pro, NP_001376374.1:p.Leu270Pro

Select item 143572548620.

rs1435725486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206177015 (GRCh38)
2:207041739 (GRCh37)
Canonical SPDI:: NC_000002.12:206177014:T:C
Gene:: CMKLR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206177015T>C, NC_000002.11:g.207041739T>C, NW_015495299.1:g.286033T>C, NM_005279.4:c.233A>G, NM_005279.3:c.233A>G, NM_001261453.2:c.233A>G, NM_001261453.1:c.233A>G, NM_001261452.2:c.233A>G, NM_001261452.1:c.233A>G, NM_001098199.2:c.233A>G, NM_001098199.1:c.233A>G, XM_047443968.1:c.233A>G, NM_001261454.1:c.233A>G, NM_001261455.1:c.233A>G, NM_001389445.1:c.233A>G, NP_005270.2:p.Asn78Ser, NP_001248382.1:p.Asn78Ser, NP_001248381.1:p.Asn78Ser, NP_001091669.1:p.Asn78Ser, XP_047299924.1:p.Asn78Ser, NP_001248383.1:p.Asn78Ser, NP_001248384.1:p.Asn78Ser, NP_001376374.1:p.Asn78Ser

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 344

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 344

Page of 18

Page of 18

Display Settings:

Supplemental Content

Find related data

Recent activity