Canonical Allele Identifier: CA347223070

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896320C>A (hg19) ; chr2:g.71669190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669190C>A , CM000664.2:g.71669190C>A	GRCh38
NC_000002.11:g.71896320C>A , CM000664.1:g.71896320C>A	GRCh37
NC_000002.10:g.71749828C>A	NCBI36
NG_008694.1:g.220568C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3039C>A	ENSP00000513536.1:p.Ser1013Arg
ENST00000698058.1:c.2256C>A	ENSP00000513537.1:p.Ser752Arg
ENST00000698059.1:c.2364C>A	ENSP00000513538.1:p.Ser788Arg
ENST00000258104.8:c.5508C>A MANE Plus Clinical	ENSP00000258104.3:p.Ser1836Arg
ENST00000410020.8:c.5625C>A MANE Select	ENSP00000386881.3:p.Ser1875Arg
ENST00000258104.7:c.5508C>A	ENSP00000258104.3:p.Ser1836Arg
ENST00000394120.6:c.5511C>A	ENSP00000377678.2:p.Ser1837Arg
ENST00000409366.5:c.5574C>A	ENSP00000386512.1:p.Ser1858Arg
ENST00000409582.7:c.5622C>A	ENSP00000386547.3:p.Ser1874Arg
ENST00000409651.5:c.5604C>A	ENSP00000386683.1:p.Ser1868Arg
ENST00000409744.5:c.5532C>A	ENSP00000386285.1:p.Ser1844Arg
ENST00000409762.5:c.5559C>A	ENSP00000387137.1:p.Ser1853Arg
ENST00000410020.7:c.5625C>A	ENSP00000386881.3:p.Ser1875Arg
ENST00000410041.1:c.5562C>A	ENSP00000386617.1:p.Ser1854Arg
ENST00000413539.6:c.5601C>A	ENSP00000407046.2:p.Ser1867Arg
ENST00000429174.6:c.5571C>A	ENSP00000398305.2:p.Ser1857Arg
ENST00000479049.6:n.2393C>A
NM_001130455.1:c.5511C>A	NP_001123927.1:p.Ser1837Arg
NM_001130976.1:c.5466C>A	NP_001124448.1:p.Ser1822Arg
NM_001130977.1:c.5529C>A	NP_001124449.1:p.Ser1843Arg
NM_001130978.1:c.5571C>A	NP_001124450.1:p.Ser1857Arg
NM_001130979.1:c.5601C>A	NP_001124451.1:p.Ser1867Arg
NM_001130980.1:c.5559C>A	NP_001124452.1:p.Ser1853Arg
NM_001130981.1:c.5622C>A	NP_001124453.1:p.Ser1874Arg
NM_001130982.1:c.5604C>A	NP_001124454.1:p.Ser1868Arg
NM_001130983.1:c.5574C>A	NP_001124455.1:p.Ser1858Arg
NM_001130984.1:c.5532C>A	NP_001124456.1:p.Ser1844Arg
NM_001130985.1:c.5562C>A	NP_001124457.1:p.Ser1854Arg
NM_001130986.1:c.5469C>A	NP_001124458.1:p.Ser1823Arg
NM_001130987.1:c.5625C>A	NP_001124459.1:p.Ser1875Arg
NM_003494.3:c.5508C>A	NP_003485.1:p.Ser1836Arg
XM_005264584.3:c.5667C>A	XP_005264641.1:p.Ser1889Arg
XM_005264585.3:c.5664C>A	XP_005264642.1:p.Ser1888Arg
XM_005264584.4:c.5667C>A	XP_005264641.1:p.Ser1889Arg
XM_005264585.5:c.5664C>A	XP_005264642.1:p.Ser1888Arg
NM_001130987.2:c.5625C>A MANE Select	NP_001124459.1:p.Ser1875Arg
NM_001130455.2:c.5511C>A	NP_001123927.1:p.Ser1837Arg
NM_001130976.2:c.5466C>A	NP_001124448.1:p.Ser1822Arg
NM_001130977.2:c.5529C>A	NP_001124449.1:p.Ser1843Arg
NM_001130978.2:c.5571C>A	NP_001124450.1:p.Ser1857Arg
NM_001130979.2:c.5601C>A	NP_001124451.1:p.Ser1867Arg
NM_001130980.2:c.5559C>A	NP_001124452.1:p.Ser1853Arg
NM_001130981.2:c.5622C>A	NP_001124453.1:p.Ser1874Arg
NM_001130982.2:c.5604C>A	NP_001124454.1:p.Ser1868Arg
NM_001130983.2:c.5574C>A	NP_001124455.1:p.Ser1858Arg
NM_001130984.2:c.5532C>A	NP_001124456.1:p.Ser1844Arg
NM_001130985.2:c.5562C>A	NP_001124457.1:p.Ser1854Arg
NM_001130986.2:c.5469C>A	NP_001124458.1:p.Ser1823Arg
NM_003494.4:c.5508C>A MANE Plus Clinical	NP_003485.1:p.Ser1836Arg