Canonical Allele Identifier: CA347223082

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896322A>C (hg19) ; chr2:g.71669192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669192A>C , CM000664.2:g.71669192A>C	GRCh38
NC_000002.11:g.71896322A>C , CM000664.1:g.71896322A>C	GRCh37
NC_000002.10:g.71749830A>C	NCBI36
NG_008694.1:g.220570A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3041A>C	ENSP00000513536.1:p.Asp1014Ala
ENST00000698058.1:c.2258A>C	ENSP00000513537.1:p.Asp753Ala
ENST00000698059.1:c.2366A>C	ENSP00000513538.1:p.Asp789Ala
ENST00000258104.8:c.5510A>C MANE Plus Clinical	ENSP00000258104.3:p.Asp1837Ala
ENST00000410020.8:c.5627A>C MANE Select	ENSP00000386881.3:p.Asp1876Ala
ENST00000258104.7:c.5510A>C	ENSP00000258104.3:p.Asp1837Ala
ENST00000394120.6:c.5513A>C	ENSP00000377678.2:p.Asp1838Ala
ENST00000409366.5:c.5576A>C	ENSP00000386512.1:p.Asp1859Ala
ENST00000409582.7:c.5624A>C	ENSP00000386547.3:p.Asp1875Ala
ENST00000409651.5:c.5606A>C	ENSP00000386683.1:p.Asp1869Ala
ENST00000409744.5:c.5534A>C	ENSP00000386285.1:p.Asp1845Ala
ENST00000409762.5:c.5561A>C	ENSP00000387137.1:p.Asp1854Ala
ENST00000410020.7:c.5627A>C	ENSP00000386881.3:p.Asp1876Ala
ENST00000410041.1:c.5564A>C	ENSP00000386617.1:p.Asp1855Ala
ENST00000413539.6:c.5603A>C	ENSP00000407046.2:p.Asp1868Ala
ENST00000429174.6:c.5573A>C	ENSP00000398305.2:p.Asp1858Ala
ENST00000479049.6:n.2395A>C
NM_001130455.1:c.5513A>C	NP_001123927.1:p.Asp1838Ala
NM_001130976.1:c.5468A>C	NP_001124448.1:p.Asp1823Ala
NM_001130977.1:c.5531A>C	NP_001124449.1:p.Asp1844Ala
NM_001130978.1:c.5573A>C	NP_001124450.1:p.Asp1858Ala
NM_001130979.1:c.5603A>C	NP_001124451.1:p.Asp1868Ala
NM_001130980.1:c.5561A>C	NP_001124452.1:p.Asp1854Ala
NM_001130981.1:c.5624A>C	NP_001124453.1:p.Asp1875Ala
NM_001130982.1:c.5606A>C	NP_001124454.1:p.Asp1869Ala
NM_001130983.1:c.5576A>C	NP_001124455.1:p.Asp1859Ala
NM_001130984.1:c.5534A>C	NP_001124456.1:p.Asp1845Ala
NM_001130985.1:c.5564A>C	NP_001124457.1:p.Asp1855Ala
NM_001130986.1:c.5471A>C	NP_001124458.1:p.Asp1824Ala
NM_001130987.1:c.5627A>C	NP_001124459.1:p.Asp1876Ala
NM_003494.3:c.5510A>C	NP_003485.1:p.Asp1837Ala
XM_005264584.3:c.5669A>C	XP_005264641.1:p.Asp1890Ala
XM_005264585.3:c.5666A>C	XP_005264642.1:p.Asp1889Ala
XM_005264584.4:c.5669A>C	XP_005264641.1:p.Asp1890Ala
XM_005264585.5:c.5666A>C	XP_005264642.1:p.Asp1889Ala
NM_001130987.2:c.5627A>C MANE Select	NP_001124459.1:p.Asp1876Ala
NM_001130455.2:c.5513A>C	NP_001123927.1:p.Asp1838Ala
NM_001130976.2:c.5468A>C	NP_001124448.1:p.Asp1823Ala
NM_001130977.2:c.5531A>C	NP_001124449.1:p.Asp1844Ala
NM_001130978.2:c.5573A>C	NP_001124450.1:p.Asp1858Ala
NM_001130979.2:c.5603A>C	NP_001124451.1:p.Asp1868Ala
NM_001130980.2:c.5561A>C	NP_001124452.1:p.Asp1854Ala
NM_001130981.2:c.5624A>C	NP_001124453.1:p.Asp1875Ala
NM_001130982.2:c.5606A>C	NP_001124454.1:p.Asp1869Ala
NM_001130983.2:c.5576A>C	NP_001124455.1:p.Asp1859Ala
NM_001130984.2:c.5534A>C	NP_001124456.1:p.Asp1845Ala
NM_001130985.2:c.5564A>C	NP_001124457.1:p.Asp1855Ala
NM_001130986.2:c.5471A>C	NP_001124458.1:p.Asp1824Ala
NM_003494.4:c.5510A>C MANE Plus Clinical	NP_003485.1:p.Asp1837Ala