Canonical Allele Identifier: CA347223484

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896758A>T (hg19) ; chr2:g.71669628A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669628A>T , CM000664.2:g.71669628A>T	GRCh38
NC_000002.11:g.71896758A>T , CM000664.1:g.71896758A>T	GRCh37
NC_000002.10:g.71750266A>T	NCBI36
NG_008694.1:g.221006A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3080A>T	ENSP00000513536.1:p.His1027Leu
ENST00000698058.1:c.2297A>T	ENSP00000513537.1:p.His766Leu
ENST00000698059.1:c.2405A>T	ENSP00000513538.1:p.His802Leu
ENST00000258104.8:c.5549A>T MANE Plus Clinical	ENSP00000258104.3:p.His1850Leu
ENST00000410020.8:c.5666A>T MANE Select	ENSP00000386881.3:p.His1889Leu
ENST00000258104.7:c.5549A>T	ENSP00000258104.3:p.His1850Leu
ENST00000394120.6:c.5552A>T	ENSP00000377678.2:p.His1851Leu
ENST00000409366.5:c.5615A>T	ENSP00000386512.1:p.His1872Leu
ENST00000409582.7:c.5663A>T	ENSP00000386547.3:p.His1888Leu
ENST00000409651.5:c.5645A>T	ENSP00000386683.1:p.His1882Leu
ENST00000409744.5:c.5573A>T	ENSP00000386285.1:p.His1858Leu
ENST00000409762.5:c.5600A>T	ENSP00000387137.1:p.His1867Leu
ENST00000410020.7:c.5666A>T	ENSP00000386881.3:p.His1889Leu
ENST00000410041.1:c.5603A>T	ENSP00000386617.1:p.His1868Leu
ENST00000413539.6:c.5642A>T	ENSP00000407046.2:p.His1881Leu
ENST00000429174.6:c.5612A>T	ENSP00000398305.2:p.His1871Leu
ENST00000479049.6:n.2434A>T
NM_001130455.1:c.5552A>T	NP_001123927.1:p.His1851Leu
NM_001130976.1:c.5507A>T	NP_001124448.1:p.His1836Leu
NM_001130977.1:c.5570A>T	NP_001124449.1:p.His1857Leu
NM_001130978.1:c.5612A>T	NP_001124450.1:p.His1871Leu
NM_001130979.1:c.5642A>T	NP_001124451.1:p.His1881Leu
NM_001130980.1:c.5600A>T	NP_001124452.1:p.His1867Leu
NM_001130981.1:c.5663A>T	NP_001124453.1:p.His1888Leu
NM_001130982.1:c.5645A>T	NP_001124454.1:p.His1882Leu
NM_001130983.1:c.5615A>T	NP_001124455.1:p.His1872Leu
NM_001130984.1:c.5573A>T	NP_001124456.1:p.His1858Leu
NM_001130985.1:c.5603A>T	NP_001124457.1:p.His1868Leu
NM_001130986.1:c.5510A>T	NP_001124458.1:p.His1837Leu
NM_001130987.1:c.5666A>T	NP_001124459.1:p.His1889Leu
NM_003494.3:c.5549A>T	NP_003485.1:p.His1850Leu
XM_005264584.3:c.5708A>T	XP_005264641.1:p.His1903Leu
XM_005264585.3:c.5705A>T	XP_005264642.1:p.His1902Leu
XM_005264584.4:c.5708A>T	XP_005264641.1:p.His1903Leu
XM_005264585.5:c.5705A>T	XP_005264642.1:p.His1902Leu
NM_001130987.2:c.5666A>T MANE Select	NP_001124459.1:p.His1889Leu
NM_001130455.2:c.5552A>T	NP_001123927.1:p.His1851Leu
NM_001130976.2:c.5507A>T	NP_001124448.1:p.His1836Leu
NM_001130977.2:c.5570A>T	NP_001124449.1:p.His1857Leu
NM_001130978.2:c.5612A>T	NP_001124450.1:p.His1871Leu
NM_001130979.2:c.5642A>T	NP_001124451.1:p.His1881Leu
NM_001130980.2:c.5600A>T	NP_001124452.1:p.His1867Leu
NM_001130981.2:c.5663A>T	NP_001124453.1:p.His1888Leu
NM_001130982.2:c.5645A>T	NP_001124454.1:p.His1882Leu
NM_001130983.2:c.5615A>T	NP_001124455.1:p.His1872Leu
NM_001130984.2:c.5573A>T	NP_001124456.1:p.His1858Leu
NM_001130985.2:c.5603A>T	NP_001124457.1:p.His1868Leu
NM_001130986.2:c.5510A>T	NP_001124458.1:p.His1837Leu
NM_003494.4:c.5549A>T MANE Plus Clinical	NP_003485.1:p.His1850Leu