Canonical Allele Identifier: CA347227914

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913616C>A (hg19) ; chr2:g.71686486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686486C>A , CM000664.2:g.71686486C>A	GRCh38
NC_000002.11:g.71913616C>A , CM000664.1:g.71913616C>A	GRCh37
NC_000002.10:g.71767124C>A	NCBI36
NG_008694.1:g.237864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3768C>A	ENSP00000513536.1:p.Phe1256Leu
ENST00000698058.1:c.2985C>A	ENSP00000513537.1:p.Phe995Leu
ENST00000698059.1:c.3093C>A	ENSP00000513538.1:p.Phe1031Leu
ENST00000258104.8:c.6237C>A MANE Plus Clinical	ENSP00000258104.3:p.Phe2079Leu
ENST00000410020.8:c.6354C>A MANE Select	ENSP00000386881.3:p.Phe2118Leu
ENST00000258104.7:c.6237C>A	ENSP00000258104.3:p.Phe2079Leu
ENST00000394120.6:c.6240C>A	ENSP00000377678.2:p.Phe2080Leu
ENST00000409366.5:c.6303C>A	ENSP00000386512.1:p.Phe2101Leu
ENST00000409582.7:c.6351C>A	ENSP00000386547.3:p.Phe2117Leu
ENST00000409651.5:c.6333C>A	ENSP00000386683.1:p.Phe2111Leu
ENST00000409744.5:c.6261C>A	ENSP00000386285.1:p.Phe2087Leu
ENST00000409762.5:c.6288C>A	ENSP00000387137.1:p.Phe2096Leu
ENST00000410020.7:c.6354C>A	ENSP00000386881.3:p.Phe2118Leu
ENST00000410041.1:c.6291C>A	ENSP00000386617.1:p.Phe2097Leu
ENST00000413539.6:c.6330C>A	ENSP00000407046.2:p.Phe2110Leu
ENST00000429174.6:c.6300C>A	ENSP00000398305.2:p.Phe2100Leu
ENST00000479049.6:n.3122C>A
NM_001130455.1:c.6240C>A	NP_001123927.1:p.Phe2080Leu
NM_001130976.1:c.6195C>A	NP_001124448.1:p.Phe2065Leu
NM_001130977.1:c.6258C>A	NP_001124449.1:p.Phe2086Leu
NM_001130978.1:c.6300C>A	NP_001124450.1:p.Phe2100Leu
NM_001130979.1:c.6330C>A	NP_001124451.1:p.Phe2110Leu
NM_001130980.1:c.6288C>A	NP_001124452.1:p.Phe2096Leu
NM_001130981.1:c.6351C>A	NP_001124453.1:p.Phe2117Leu
NM_001130982.1:c.6333C>A	NP_001124454.1:p.Phe2111Leu
NM_001130983.1:c.6303C>A	NP_001124455.1:p.Phe2101Leu
NM_001130984.1:c.6261C>A	NP_001124456.1:p.Phe2087Leu
NM_001130985.1:c.6291C>A	NP_001124457.1:p.Phe2097Leu
NM_001130986.1:c.6198C>A	NP_001124458.1:p.Phe2066Leu
NM_001130987.1:c.6354C>A	NP_001124459.1:p.Phe2118Leu
NM_003494.3:c.6237C>A	NP_003485.1:p.Phe2079Leu
XM_005264584.3:c.6396C>A	XP_005264641.1:p.Phe2132Leu
XM_005264585.3:c.6393C>A	XP_005264642.1:p.Phe2131Leu
XM_005264584.4:c.6396C>A	XP_005264641.1:p.Phe2132Leu
XM_005264585.5:c.6393C>A	XP_005264642.1:p.Phe2131Leu
NM_001130987.2:c.6354C>A MANE Select	NP_001124459.1:p.Phe2118Leu
NM_001130455.2:c.6240C>A	NP_001123927.1:p.Phe2080Leu
NM_001130976.2:c.6195C>A	NP_001124448.1:p.Phe2065Leu
NM_001130977.2:c.6258C>A	NP_001124449.1:p.Phe2086Leu
NM_001130978.2:c.6300C>A	NP_001124450.1:p.Phe2100Leu
NM_001130979.2:c.6330C>A	NP_001124451.1:p.Phe2110Leu
NM_001130980.2:c.6288C>A	NP_001124452.1:p.Phe2096Leu
NM_001130981.2:c.6351C>A	NP_001124453.1:p.Phe2117Leu
NM_001130982.2:c.6333C>A	NP_001124454.1:p.Phe2111Leu
NM_001130983.2:c.6303C>A	NP_001124455.1:p.Phe2101Leu
NM_001130984.2:c.6261C>A	NP_001124456.1:p.Phe2087Leu
NM_001130985.2:c.6291C>A	NP_001124457.1:p.Phe2097Leu
NM_001130986.2:c.6198C>A	NP_001124458.1:p.Phe2066Leu
NM_003494.4:c.6237C>A MANE Plus Clinical	NP_003485.1:p.Phe2079Leu