Canonical Allele Identifier: CA347223067

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896319G>T (hg19) ; chr2:g.71669189G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669189G>T , CM000664.2:g.71669189G>T	GRCh38
NC_000002.11:g.71896319G>T , CM000664.1:g.71896319G>T	GRCh37
NC_000002.10:g.71749827G>T	NCBI36
NG_008694.1:g.220567G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3038G>T	ENSP00000513536.1:p.Ser1013Ile
ENST00000698058.1:c.2255G>T	ENSP00000513537.1:p.Ser752Ile
ENST00000698059.1:c.2363G>T	ENSP00000513538.1:p.Ser788Ile
ENST00000258104.8:c.5507G>T MANE Plus Clinical	ENSP00000258104.3:p.Ser1836Ile
ENST00000410020.8:c.5624G>T MANE Select	ENSP00000386881.3:p.Ser1875Ile
ENST00000258104.7:c.5507G>T	ENSP00000258104.3:p.Ser1836Ile
ENST00000394120.6:c.5510G>T	ENSP00000377678.2:p.Ser1837Ile
ENST00000409366.5:c.5573G>T	ENSP00000386512.1:p.Ser1858Ile
ENST00000409582.7:c.5621G>T	ENSP00000386547.3:p.Ser1874Ile
ENST00000409651.5:c.5603G>T	ENSP00000386683.1:p.Ser1868Ile
ENST00000409744.5:c.5531G>T	ENSP00000386285.1:p.Ser1844Ile
ENST00000409762.5:c.5558G>T	ENSP00000387137.1:p.Ser1853Ile
ENST00000410020.7:c.5624G>T	ENSP00000386881.3:p.Ser1875Ile
ENST00000410041.1:c.5561G>T	ENSP00000386617.1:p.Ser1854Ile
ENST00000413539.6:c.5600G>T	ENSP00000407046.2:p.Ser1867Ile
ENST00000429174.6:c.5570G>T	ENSP00000398305.2:p.Ser1857Ile
ENST00000479049.6:n.2392G>T
NM_001130455.1:c.5510G>T	NP_001123927.1:p.Ser1837Ile
NM_001130976.1:c.5465G>T	NP_001124448.1:p.Ser1822Ile
NM_001130977.1:c.5528G>T	NP_001124449.1:p.Ser1843Ile
NM_001130978.1:c.5570G>T	NP_001124450.1:p.Ser1857Ile
NM_001130979.1:c.5600G>T	NP_001124451.1:p.Ser1867Ile
NM_001130980.1:c.5558G>T	NP_001124452.1:p.Ser1853Ile
NM_001130981.1:c.5621G>T	NP_001124453.1:p.Ser1874Ile
NM_001130982.1:c.5603G>T	NP_001124454.1:p.Ser1868Ile
NM_001130983.1:c.5573G>T	NP_001124455.1:p.Ser1858Ile
NM_001130984.1:c.5531G>T	NP_001124456.1:p.Ser1844Ile
NM_001130985.1:c.5561G>T	NP_001124457.1:p.Ser1854Ile
NM_001130986.1:c.5468G>T	NP_001124458.1:p.Ser1823Ile
NM_001130987.1:c.5624G>T	NP_001124459.1:p.Ser1875Ile
NM_003494.3:c.5507G>T	NP_003485.1:p.Ser1836Ile
XM_005264584.3:c.5666G>T	XP_005264641.1:p.Ser1889Ile
XM_005264585.3:c.5663G>T	XP_005264642.1:p.Ser1888Ile
XM_005264584.4:c.5666G>T	XP_005264641.1:p.Ser1889Ile
XM_005264585.5:c.5663G>T	XP_005264642.1:p.Ser1888Ile
NM_001130987.2:c.5624G>T MANE Select	NP_001124459.1:p.Ser1875Ile
NM_001130455.2:c.5510G>T	NP_001123927.1:p.Ser1837Ile
NM_001130976.2:c.5465G>T	NP_001124448.1:p.Ser1822Ile
NM_001130977.2:c.5528G>T	NP_001124449.1:p.Ser1843Ile
NM_001130978.2:c.5570G>T	NP_001124450.1:p.Ser1857Ile
NM_001130979.2:c.5600G>T	NP_001124451.1:p.Ser1867Ile
NM_001130980.2:c.5558G>T	NP_001124452.1:p.Ser1853Ile
NM_001130981.2:c.5621G>T	NP_001124453.1:p.Ser1874Ile
NM_001130982.2:c.5603G>T	NP_001124454.1:p.Ser1868Ile
NM_001130983.2:c.5573G>T	NP_001124455.1:p.Ser1858Ile
NM_001130984.2:c.5531G>T	NP_001124456.1:p.Ser1844Ile
NM_001130985.2:c.5561G>T	NP_001124457.1:p.Ser1854Ile
NM_001130986.2:c.5468G>T	NP_001124458.1:p.Ser1823Ile
NM_003494.4:c.5507G>T MANE Plus Clinical	NP_003485.1:p.Ser1836Ile