Canonical Allele Identifier: CA347223011

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896310A>T (hg19) ; chr2:g.71669180A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669180A>T , CM000664.2:g.71669180A>T	GRCh38
NC_000002.11:g.71896310A>T , CM000664.1:g.71896310A>T	GRCh37
NC_000002.10:g.71749818A>T	NCBI36
NG_008694.1:g.220558A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3029A>T	ENSP00000513536.1:p.Glu1010Val
ENST00000698058.1:c.2246A>T	ENSP00000513537.1:p.Glu749Val
ENST00000698059.1:c.2354A>T	ENSP00000513538.1:p.Glu785Val
ENST00000258104.8:c.5498A>T MANE Plus Clinical	ENSP00000258104.3:p.Glu1833Val
ENST00000410020.8:c.5615A>T MANE Select	ENSP00000386881.3:p.Glu1872Val
ENST00000258104.7:c.5498A>T	ENSP00000258104.3:p.Glu1833Val
ENST00000394120.6:c.5501A>T	ENSP00000377678.2:p.Glu1834Val
ENST00000409366.5:c.5564A>T	ENSP00000386512.1:p.Glu1855Val
ENST00000409582.7:c.5612A>T	ENSP00000386547.3:p.Glu1871Val
ENST00000409651.5:c.5594A>T	ENSP00000386683.1:p.Glu1865Val
ENST00000409744.5:c.5522A>T	ENSP00000386285.1:p.Glu1841Val
ENST00000409762.5:c.5549A>T	ENSP00000387137.1:p.Glu1850Val
ENST00000410020.7:c.5615A>T	ENSP00000386881.3:p.Glu1872Val
ENST00000410041.1:c.5552A>T	ENSP00000386617.1:p.Glu1851Val
ENST00000413539.6:c.5591A>T	ENSP00000407046.2:p.Glu1864Val
ENST00000429174.6:c.5561A>T	ENSP00000398305.2:p.Glu1854Val
ENST00000479049.6:n.2383A>T
NM_001130455.1:c.5501A>T	NP_001123927.1:p.Glu1834Val
NM_001130976.1:c.5456A>T	NP_001124448.1:p.Glu1819Val
NM_001130977.1:c.5519A>T	NP_001124449.1:p.Glu1840Val
NM_001130978.1:c.5561A>T	NP_001124450.1:p.Glu1854Val
NM_001130979.1:c.5591A>T	NP_001124451.1:p.Glu1864Val
NM_001130980.1:c.5549A>T	NP_001124452.1:p.Glu1850Val
NM_001130981.1:c.5612A>T	NP_001124453.1:p.Glu1871Val
NM_001130982.1:c.5594A>T	NP_001124454.1:p.Glu1865Val
NM_001130983.1:c.5564A>T	NP_001124455.1:p.Glu1855Val
NM_001130984.1:c.5522A>T	NP_001124456.1:p.Glu1841Val
NM_001130985.1:c.5552A>T	NP_001124457.1:p.Glu1851Val
NM_001130986.1:c.5459A>T	NP_001124458.1:p.Glu1820Val
NM_001130987.1:c.5615A>T	NP_001124459.1:p.Glu1872Val
NM_003494.3:c.5498A>T	NP_003485.1:p.Glu1833Val
XM_005264584.3:c.5657A>T	XP_005264641.1:p.Glu1886Val
XM_005264585.3:c.5654A>T	XP_005264642.1:p.Glu1885Val
XM_005264584.4:c.5657A>T	XP_005264641.1:p.Glu1886Val
XM_005264585.5:c.5654A>T	XP_005264642.1:p.Glu1885Val
NM_001130987.2:c.5615A>T MANE Select	NP_001124459.1:p.Glu1872Val
NM_001130455.2:c.5501A>T	NP_001123927.1:p.Glu1834Val
NM_001130976.2:c.5456A>T	NP_001124448.1:p.Glu1819Val
NM_001130977.2:c.5519A>T	NP_001124449.1:p.Glu1840Val
NM_001130978.2:c.5561A>T	NP_001124450.1:p.Glu1854Val
NM_001130979.2:c.5591A>T	NP_001124451.1:p.Glu1864Val
NM_001130980.2:c.5549A>T	NP_001124452.1:p.Glu1850Val
NM_001130981.2:c.5612A>T	NP_001124453.1:p.Glu1871Val
NM_001130982.2:c.5594A>T	NP_001124454.1:p.Glu1865Val
NM_001130983.2:c.5564A>T	NP_001124455.1:p.Glu1855Val
NM_001130984.2:c.5522A>T	NP_001124456.1:p.Glu1841Val
NM_001130985.2:c.5552A>T	NP_001124457.1:p.Glu1851Val
NM_001130986.2:c.5459A>T	NP_001124458.1:p.Glu1820Val
NM_003494.4:c.5498A>T MANE Plus Clinical	NP_003485.1:p.Glu1833Val