Canonical Allele Identifier: CA277609

Gene: DYSF

Linked Data

• ClinVar Variation Id: 217225
• ClinVar RCV Id: RCV000201098 ; RCV000255805 ; RCV000526163 ; RCV001814110 ; RCV003462352
• dbSNP Id: rs369607332
• ExAC: 2:71797809 C / T
• gnomAD v2: 2-71797809-C-T
• gnomAD v3: 2-71570679-C-T
• gnomAD v4: 2-71570679-C-T
• COSMIC: COSM3695590 ; COSM3695591
• MyVariant Identifiers: chr2:g.71797809C>T (hg19) ; chr2:g.71570679C>T (hg38)
• PubMed: PMID:16010686 ; PMID:23243261 ; PMID:25363760

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570679C>T , CM000664.2:g.71570679C>T	GRCh38
NC_000002.11:g.71797809C>T , CM000664.1:g.71797809C>T	GRCh37
NC_000002.10:g.71651317C>T	NCBI36
NG_008694.1:g.122057C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.538C>T	ENSP00000513536.1:p.Arg180Ter
ENST00000258104.8:c.3112C>T MANE Plus Clinical	ENSP00000258104.3:p.Arg1038Ter
ENST00000410020.8:c.3166C>T MANE Select	ENSP00000386881.3:p.Arg1056Ter
ENST00000258104.7:c.3112C>T	ENSP00000258104.3:p.Arg1038Ter
ENST00000394120.6:c.3115C>T	ENSP00000377678.2:p.Arg1039Ter
ENST00000409366.5:c.3115C>T	ENSP00000386512.1:p.Arg1039Ter
ENST00000409582.7:c.3163C>T	ENSP00000386547.3:p.Arg1055Ter
ENST00000409651.5:c.3208C>T	ENSP00000386683.1:p.Arg1070Ter
ENST00000409744.5:c.3073C>T	ENSP00000386285.1:p.Arg1025Ter
ENST00000409762.5:c.3163C>T	ENSP00000387137.1:p.Arg1055Ter
ENST00000410020.7:c.3166C>T	ENSP00000386881.3:p.Arg1056Ter
ENST00000410041.1:c.3166C>T	ENSP00000386617.1:p.Arg1056Ter
ENST00000413539.6:c.3205C>T	ENSP00000407046.2:p.Arg1069Ter
ENST00000429174.6:c.3112C>T	ENSP00000398305.2:p.Arg1038Ter
ENST00000461565.1:n.278C>T
NM_001130455.1:c.3115C>T	NP_001123927.1:p.Arg1039Ter
NM_001130976.1:c.3070C>T	NP_001124448.1:p.Arg1024Ter
NM_001130977.1:c.3070C>T	NP_001124449.1:p.Arg1024Ter
NM_001130978.1:c.3112C>T	NP_001124450.1:p.Arg1038Ter
NM_001130979.1:c.3205C>T	NP_001124451.1:p.Arg1069Ter
NM_001130980.1:c.3163C>T	NP_001124452.1:p.Arg1055Ter
NM_001130981.1:c.3163C>T	NP_001124453.1:p.Arg1055Ter
NM_001130982.1:c.3208C>T	NP_001124454.1:p.Arg1070Ter
NM_001130983.1:c.3115C>T	NP_001124455.1:p.Arg1039Ter
NM_001130984.1:c.3073C>T	NP_001124456.1:p.Arg1025Ter
NM_001130985.1:c.3166C>T	NP_001124457.1:p.Arg1056Ter
NM_001130986.1:c.3073C>T	NP_001124458.1:p.Arg1025Ter
NM_001130987.1:c.3166C>T	NP_001124459.1:p.Arg1056Ter
NM_003494.3:c.3112C>T	NP_003485.1:p.Arg1038Ter
XM_005264584.3:c.3208C>T	XP_005264641.1:p.Arg1070Ter
XM_005264585.3:c.3205C>T	XP_005264642.1:p.Arg1069Ter
XM_005264584.4:c.3208C>T	XP_005264641.1:p.Arg1070Ter
XM_005264585.5:c.3205C>T	XP_005264642.1:p.Arg1069Ter
XR_001738969.1:n.3366C>T
NM_001130987.2:c.3166C>T MANE Select	NP_001124459.1:p.Arg1056Ter
NM_001130455.2:c.3115C>T	NP_001123927.1:p.Arg1039Ter
NM_001130976.2:c.3070C>T	NP_001124448.1:p.Arg1024Ter
NM_001130977.2:c.3070C>T	NP_001124449.1:p.Arg1024Ter
NM_001130978.2:c.3112C>T	NP_001124450.1:p.Arg1038Ter
NM_001130979.2:c.3205C>T	NP_001124451.1:p.Arg1069Ter
NM_001130980.2:c.3163C>T	NP_001124452.1:p.Arg1055Ter
NM_001130981.2:c.3163C>T	NP_001124453.1:p.Arg1055Ter
NM_001130982.2:c.3208C>T	NP_001124454.1:p.Arg1070Ter
NM_001130983.2:c.3115C>T	NP_001124455.1:p.Arg1039Ter
NM_001130984.2:c.3073C>T	NP_001124456.1:p.Arg1025Ter
NM_001130985.2:c.3166C>T	NP_001124457.1:p.Arg1056Ter
NM_001130986.2:c.3073C>T	NP_001124458.1:p.Arg1025Ter
NM_003494.4:c.3112C>T MANE Plus Clinical	NP_003485.1:p.Arg1038Ter