Canonical Allele Identifier: CA347223095

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896323C>A (hg19) ; chr2:g.71669193C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669193C>A , CM000664.2:g.71669193C>A	GRCh38
NC_000002.11:g.71896323C>A , CM000664.1:g.71896323C>A	GRCh37
NC_000002.10:g.71749831C>A	NCBI36
NG_008694.1:g.220571C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3042C>A	ENSP00000513536.1:p.Asp1014Glu
ENST00000698058.1:c.2259C>A	ENSP00000513537.1:p.Asp753Glu
ENST00000698059.1:c.2367C>A	ENSP00000513538.1:p.Asp789Glu
ENST00000258104.8:c.5511C>A MANE Plus Clinical	ENSP00000258104.3:p.Asp1837Glu
ENST00000410020.8:c.5628C>A MANE Select	ENSP00000386881.3:p.Asp1876Glu
ENST00000258104.7:c.5511C>A	ENSP00000258104.3:p.Asp1837Glu
ENST00000394120.6:c.5514C>A	ENSP00000377678.2:p.Asp1838Glu
ENST00000409366.5:c.5577C>A	ENSP00000386512.1:p.Asp1859Glu
ENST00000409582.7:c.5625C>A	ENSP00000386547.3:p.Asp1875Glu
ENST00000409651.5:c.5607C>A	ENSP00000386683.1:p.Asp1869Glu
ENST00000409744.5:c.5535C>A	ENSP00000386285.1:p.Asp1845Glu
ENST00000409762.5:c.5562C>A	ENSP00000387137.1:p.Asp1854Glu
ENST00000410020.7:c.5628C>A	ENSP00000386881.3:p.Asp1876Glu
ENST00000410041.1:c.5565C>A	ENSP00000386617.1:p.Asp1855Glu
ENST00000413539.6:c.5604C>A	ENSP00000407046.2:p.Asp1868Glu
ENST00000429174.6:c.5574C>A	ENSP00000398305.2:p.Asp1858Glu
ENST00000479049.6:n.2396C>A
NM_001130455.1:c.5514C>A	NP_001123927.1:p.Asp1838Glu
NM_001130976.1:c.5469C>A	NP_001124448.1:p.Asp1823Glu
NM_001130977.1:c.5532C>A	NP_001124449.1:p.Asp1844Glu
NM_001130978.1:c.5574C>A	NP_001124450.1:p.Asp1858Glu
NM_001130979.1:c.5604C>A	NP_001124451.1:p.Asp1868Glu
NM_001130980.1:c.5562C>A	NP_001124452.1:p.Asp1854Glu
NM_001130981.1:c.5625C>A	NP_001124453.1:p.Asp1875Glu
NM_001130982.1:c.5607C>A	NP_001124454.1:p.Asp1869Glu
NM_001130983.1:c.5577C>A	NP_001124455.1:p.Asp1859Glu
NM_001130984.1:c.5535C>A	NP_001124456.1:p.Asp1845Glu
NM_001130985.1:c.5565C>A	NP_001124457.1:p.Asp1855Glu
NM_001130986.1:c.5472C>A	NP_001124458.1:p.Asp1824Glu
NM_001130987.1:c.5628C>A	NP_001124459.1:p.Asp1876Glu
NM_003494.3:c.5511C>A	NP_003485.1:p.Asp1837Glu
XM_005264584.3:c.5670C>A	XP_005264641.1:p.Asp1890Glu
XM_005264585.3:c.5667C>A	XP_005264642.1:p.Asp1889Glu
XM_005264584.4:c.5670C>A	XP_005264641.1:p.Asp1890Glu
XM_005264585.5:c.5667C>A	XP_005264642.1:p.Asp1889Glu
NM_001130987.2:c.5628C>A MANE Select	NP_001124459.1:p.Asp1876Glu
NM_001130455.2:c.5514C>A	NP_001123927.1:p.Asp1838Glu
NM_001130976.2:c.5469C>A	NP_001124448.1:p.Asp1823Glu
NM_001130977.2:c.5532C>A	NP_001124449.1:p.Asp1844Glu
NM_001130978.2:c.5574C>A	NP_001124450.1:p.Asp1858Glu
NM_001130979.2:c.5604C>A	NP_001124451.1:p.Asp1868Glu
NM_001130980.2:c.5562C>A	NP_001124452.1:p.Asp1854Glu
NM_001130981.2:c.5625C>A	NP_001124453.1:p.Asp1875Glu
NM_001130982.2:c.5607C>A	NP_001124454.1:p.Asp1869Glu
NM_001130983.2:c.5577C>A	NP_001124455.1:p.Asp1859Glu
NM_001130984.2:c.5535C>A	NP_001124456.1:p.Asp1845Glu
NM_001130985.2:c.5565C>A	NP_001124457.1:p.Asp1855Glu
NM_001130986.2:c.5472C>A	NP_001124458.1:p.Asp1824Glu
NM_003494.4:c.5511C>A MANE Plus Clinical	NP_003485.1:p.Asp1837Glu