SNP Links for Protein (Select 153792663) - SNP

Links from Protein

Items: 1 to 20 of 1712

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Select item 14904630431.

rs1490463043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:10524996 (GRCh38)
17:10428313 (GRCh37)
Canonical SPDI:: NC_000017.11:10524995:C:A,NC_000017.11:10524995:C:T
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.10524996C>A, NC_000017.11:g.10524996C>T, NC_000017.10:g.10428313C>A, NC_000017.10:g.10428313C>T, NG_013014.1:g.29705G>T, NG_013014.1:g.29705G>A, NM_017534.6:c.4732G>T, NM_017534.6:c.4732G>A, NM_017534.5:c.4732G>T, NM_017534.5:c.4732G>A, NM_001100112.2:c.4732G>T, NM_001100112.2:c.4732G>A, NM_001100112.1:c.4732G>T, NM_001100112.1:c.4732G>A, NP_060004.3:p.Val1578Phe, NP_060004.3:p.Val1578Ile, NP_001093582.1:p.Val1578Phe, NP_001093582.1:p.Val1578Ile

Select item 14903388592.

rs1490338859 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:10524537 (GRCh38)
17:10427854 (GRCh37)
Canonical SPDI:: NC_000017.11:10524532:CTCTCT:CTCT
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10524533CT[2], NC_000017.10:g.10427850CT[2], NG_013014.1:g.30163AG[2], NM_017534.6:c.5107_5108del, NM_017534.5:c.5107_5108del, NM_001100112.2:c.5107_5108del, NM_001100112.1:c.5107_5108del, NP_060004.3:p.Arg1703fs, NP_001093582.1:p.Arg1703fs

Select item 14892477773.

rs1489247777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:10525578 (GRCh38)
17:10428895 (GRCh37)
Canonical SPDI:: NC_000017.11:10525577:A:G
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.10525578A>G, NC_000017.10:g.10428895A>G, NG_013014.1:g.29123T>C, NM_017534.6:c.4410T>C, NM_017534.5:c.4410T>C, NM_001100112.2:c.4410T>C, NM_001100112.1:c.4410T>C

Select item 14891050014.

rs1489105001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:10531813 (GRCh38)
17:10435130 (GRCh37)
Canonical SPDI:: NC_000017.11:10531812:G:A,NC_000017.11:10531812:G:T
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.10531813G>A, NC_000017.11:g.10531813G>T, NC_000017.10:g.10435130G>A, NC_000017.10:g.10435130G>T, NG_013014.1:g.22888C>T, NG_013014.1:g.22888C>A, NM_017534.6:c.2517C>T, NM_017534.6:c.2517C>A, NM_017534.5:c.2517C>T, NM_017534.5:c.2517C>A, NM_001100112.2:c.2517C>T, NM_001100112.2:c.2517C>A, NM_001100112.1:c.2517C>T, NM_001100112.1:c.2517C>A, NP_060004.3:p.Phe839Leu, NP_001093582.1:p.Phe839Leu

Select item 14886256975.

rs1488625697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:10537365 (GRCh38)
17:10440682 (GRCh37)
Canonical SPDI:: NC_000017.11:10537364:C:T
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10537365C>T, NC_000017.10:g.10440682C>T, NG_013014.1:g.17336G>A, NM_017534.6:c.1765G>A, NM_017534.5:c.1765G>A, NM_001100112.2:c.1765G>A, NM_001100112.1:c.1765G>A, NP_060004.3:p.Val589Met, NP_001093582.1:p.Val589Met

Select item 14882361416.

rs1488236141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:10523319 (GRCh38)
17:10426636 (GRCh37)
Canonical SPDI:: NC_000017.11:10523318:G:A,NC_000017.11:10523318:G:C
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10523319G>A, NC_000017.11:g.10523319G>C, NC_000017.10:g.10426636G>A, NC_000017.10:g.10426636G>C, NG_013014.1:g.31382C>T, NG_013014.1:g.31382C>G, NM_017534.6:c.5566C>T, NM_017534.6:c.5566C>G, NM_017534.5:c.5566C>T, NM_017534.5:c.5566C>G, NM_001100112.2:c.5566C>T, NM_001100112.2:c.5566C>G, NM_001100112.1:c.5566C>T, NM_001100112.1:c.5566C>G, NP_060004.3:p.Leu1856Phe, NP_060004.3:p.Leu1856Val, NP_001093582.1:p.Leu1856Phe, NP_001093582.1:p.Leu1856Val

Select item 14862715757.

rs1486271575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10531870 (GRCh38)
17:10435187 (GRCh37)
Canonical SPDI:: NC_000017.11:10531869:G:A
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.10531870G>A, NC_000017.10:g.10435187G>A, NG_013014.1:g.22831C>T, NM_017534.6:c.2460C>T, NM_017534.5:c.2460C>T, NM_001100112.2:c.2460C>T, NM_001100112.1:c.2460C>T

Select item 14829822748.

rs1482982274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10537453 (GRCh38)
17:10440770 (GRCh37)
Canonical SPDI:: NC_000017.11:10537452:G:A
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.10537453G>A, NC_000017.10:g.10440770G>A, NG_013014.1:g.17248C>T, NM_017534.6:c.1677C>T, NM_017534.5:c.1677C>T, NM_001100112.2:c.1677C>T, NM_001100112.1:c.1677C>T

Select item 14825061329.

rs1482506132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:10528930 (GRCh38)
17:10432247 (GRCh37)
Canonical SPDI:: NC_000017.11:10528929:C:G,NC_000017.11:10528929:C:T
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.10528930C>G, NC_000017.11:g.10528930C>T, NC_000017.10:g.10432247C>G, NC_000017.10:g.10432247C>T, NG_013014.1:g.25771G>C, NG_013014.1:g.25771G>A, NM_017534.6:c.3504G>C, NM_017534.6:c.3504G>A, NM_017534.5:c.3504G>C, NM_017534.5:c.3504G>A, NM_001100112.2:c.3504G>C, NM_001100112.2:c.3504G>A, NM_001100112.1:c.3504G>C, NM_001100112.1:c.3504G>A, NP_060004.3:p.Glu1168Asp, NP_001093582.1:p.Glu1168Asp

Select item 148191731610.

rs1481917316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:10527844 (GRCh38)
17:10431161 (GRCh37)
Canonical SPDI:: NC_000017.11:10527843:C:G
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.10527844C>G, NC_000017.10:g.10431161C>G, NG_013014.1:g.26857G>C, NM_017534.6:c.3775G>C, NM_017534.5:c.3775G>C, NM_001100112.2:c.3775G>C, NM_001100112.1:c.3775G>C, NP_060004.3:p.Glu1259Gln, NP_001093582.1:p.Glu1259Gln

Select item 148163790511.

rs1481637905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10529202 (GRCh38)
17:10432519 (GRCh37)
Canonical SPDI:: NC_000017.11:10529201:G:A
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10529202G>A, NC_000017.10:g.10432519G>A, NG_013014.1:g.25499C>T, NM_017534.6:c.3314C>T, NM_017534.5:c.3314C>T, NM_001100112.2:c.3314C>T, NM_001100112.1:c.3314C>T, NP_060004.3:p.Ala1105Val, NP_001093582.1:p.Ala1105Val

Select item 148159333512.

rs1481593335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:10524898 (GRCh38)
17:10428215 (GRCh37)
Canonical SPDI:: NC_000017.11:10524897:C:G
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10524898C>G, NC_000017.10:g.10428215C>G, NG_013014.1:g.29803G>C, NM_017534.6:c.4830G>C, NM_017534.5:c.4830G>C, NM_001100112.2:c.4830G>C, NM_001100112.1:c.4830G>C, NP_060004.3:p.Glu1610Asp, NP_001093582.1:p.Glu1610Asp

Select item 148149375213.

rs1481493752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:10529683 (GRCh38)
17:10433000 (GRCh37)
Canonical SPDI:: NC_000017.11:10529682:T:C
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.10529683T>C, NC_000017.10:g.10433000T>C, NG_013014.1:g.25018A>G, NM_017534.6:c.2998A>G, NM_017534.5:c.2998A>G, NM_001100112.2:c.2998A>G, NM_001100112.1:c.2998A>G, NP_060004.3:p.Lys1000Glu, NP_001093582.1:p.Lys1000Glu

Select item 148028923914.

rs1480289239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:10521416 (GRCh38)
17:10424733 (GRCh37)
Canonical SPDI:: NC_000017.11:10521415:G:C
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000017.11:g.10521416G>C, NC_000017.10:g.10424733G>C, NG_013014.1:g.33285C>G, NM_017534.6:c.5690C>G, NM_017534.5:c.5690C>G, NM_001100112.2:c.5690C>G, NM_001100112.1:c.5690C>G, NP_060004.3:p.Thr1897Ser, NP_001093582.1:p.Thr1897Ser

Select item 147975479715.

rs1479754797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:10524492 (GRCh38)
17:10427809 (GRCh37)
Canonical SPDI:: NC_000017.11:10524491:C:T
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.10524492C>T, NC_000017.10:g.10427809C>T, NG_013014.1:g.30209G>A, NM_017534.6:c.5149G>A, NM_017534.5:c.5149G>A, NM_001100112.2:c.5149G>A, NM_001100112.1:c.5149G>A, NP_060004.3:p.Glu1717Lys, NP_001093582.1:p.Glu1717Lys

Select item 147965855916.

rs1479658559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:10530048 (GRCh38)
17:10433365 (GRCh37)
Canonical SPDI:: NC_000017.11:10530047:C:T
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10530048C>T, NC_000017.10:g.10433365C>T, NG_013014.1:g.24653G>A, NM_017534.6:c.2724G>A, NM_017534.5:c.2724G>A, NM_001100112.2:c.2724G>A, NM_001100112.1:c.2724G>A

Select item 147965831217.

rs1479658312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:10545371 (GRCh38)
17:10448688 (GRCh37)
Canonical SPDI:: NC_000017.11:10545370:G:C
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10545371G>C, NC_000017.10:g.10448688G>C, NG_013014.1:g.9330C>G, NM_017534.6:c.480C>G, NM_017534.5:c.480C>G, NM_001100112.2:c.480C>G, NM_001100112.1:c.480C>G, NP_060004.3:p.Asp160Glu, NP_001093582.1:p.Asp160Glu

Select item 147891908918.

rs1478919089 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:10529859 (GRCh38)
17:10433176 (GRCh37)
Canonical SPDI:: NC_000017.11:10529858:C:
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.10529859del, NC_000017.10:g.10433176del, NG_013014.1:g.24842del, NM_017534.6:c.2913del, NM_017534.5:c.2913del, NM_001100112.2:c.2913del, NM_001100112.1:c.2913del, NP_060004.3:p.Lys972fs, NP_001093582.1:p.Lys972fs

Select item 147822874019.

rs1478228740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:10524848 (GRCh38)
17:10428165 (GRCh37)
Canonical SPDI:: NC_000017.11:10524847:T:C
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000017.11:g.10524848T>C, NC_000017.10:g.10428165T>C, NG_013014.1:g.29853A>G, NM_017534.6:c.4880A>G, NM_017534.5:c.4880A>G, NM_001100112.2:c.4880A>G, NM_001100112.1:c.4880A>G, NP_060004.3:p.Asp1627Gly, NP_001093582.1:p.Asp1627Gly

Select item 147573962420.

rs1475739624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10533552 (GRCh38)
17:10436869 (GRCh37)
Canonical SPDI:: NC_000017.11:10533551:G:A
Gene:: MYH2 (Varview), MYHAS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.10533552G>A, NC_000017.10:g.10436869G>A, NG_013014.1:g.21149C>T, NM_017534.6:c.2261C>T, NM_017534.5:c.2261C>T, NM_001100112.2:c.2261C>T, NM_001100112.1:c.2261C>T, NP_060004.3:p.Ser754Phe, NP_001093582.1:p.Ser754Phe

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