Canonical Allele Identifier: CA426704463

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896335A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669205A>G , CM000664.2:g.71669205A>G	GRCh38
NC_000002.11:g.71896335A>G , CM000664.1:g.71896335A>G	GRCh37
NC_000002.10:g.71749843A>G	NCBI36
NG_008694.1:g.220583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3054A>G	ENSP00000513536.1:p.Lys1018=
ENST00000698058.1:c.2271A>G	ENSP00000513537.1:p.Lys757=
ENST00000698059.1:c.2379A>G	ENSP00000513538.1:p.Lys793=
ENST00000258104.8:c.5523A>G MANE Plus Clinical	ENSP00000258104.3:p.Lys1841=
ENST00000410020.8:c.5640A>G MANE Select	ENSP00000386881.3:p.Lys1880=
ENST00000258104.7:c.5523A>G	ENSP00000258104.3:p.Lys1841=
ENST00000394120.6:c.5526A>G	ENSP00000377678.2:p.Lys1842=
ENST00000409366.5:c.5589A>G	ENSP00000386512.1:p.Lys1863=
ENST00000409582.7:c.5637A>G	ENSP00000386547.3:p.Lys1879=
ENST00000409651.5:c.5619A>G	ENSP00000386683.1:p.Lys1873=
ENST00000409744.5:c.5547A>G	ENSP00000386285.1:p.Lys1849=
ENST00000409762.5:c.5574A>G	ENSP00000387137.1:p.Lys1858=
ENST00000410020.7:c.5640A>G	ENSP00000386881.3:p.Lys1880=
ENST00000410041.1:c.5577A>G	ENSP00000386617.1:p.Lys1859=
ENST00000413539.6:c.5616A>G	ENSP00000407046.2:p.Lys1872=
ENST00000429174.6:c.5586A>G	ENSP00000398305.2:p.Lys1862=
ENST00000479049.6:n.2408A>G
NM_001130455.1:c.5526A>G	NP_001123927.1:p.Lys1842=
NM_001130976.1:c.5481A>G	NP_001124448.1:p.Lys1827=
NM_001130977.1:c.5544A>G	NP_001124449.1:p.Lys1848=
NM_001130978.1:c.5586A>G	NP_001124450.1:p.Lys1862=
NM_001130979.1:c.5616A>G	NP_001124451.1:p.Lys1872=
NM_001130980.1:c.5574A>G	NP_001124452.1:p.Lys1858=
NM_001130981.1:c.5637A>G	NP_001124453.1:p.Lys1879=
NM_001130982.1:c.5619A>G	NP_001124454.1:p.Lys1873=
NM_001130983.1:c.5589A>G	NP_001124455.1:p.Lys1863=
NM_001130984.1:c.5547A>G	NP_001124456.1:p.Lys1849=
NM_001130985.1:c.5577A>G	NP_001124457.1:p.Lys1859=
NM_001130986.1:c.5484A>G	NP_001124458.1:p.Lys1828=
NM_001130987.1:c.5640A>G	NP_001124459.1:p.Lys1880=
NM_003494.3:c.5523A>G	NP_003485.1:p.Lys1841=
XM_005264584.3:c.5682A>G	XP_005264641.1:p.Lys1894=
XM_005264585.3:c.5679A>G	XP_005264642.1:p.Lys1893=
XM_005264584.4:c.5682A>G	XP_005264641.1:p.Lys1894=
XM_005264585.5:c.5679A>G	XP_005264642.1:p.Lys1893=
NM_001130987.2:c.5640A>G MANE Select	NP_001124459.1:p.Lys1880=
NM_001130455.2:c.5526A>G	NP_001123927.1:p.Lys1842=
NM_001130976.2:c.5481A>G	NP_001124448.1:p.Lys1827=
NM_001130977.2:c.5544A>G	NP_001124449.1:p.Lys1848=
NM_001130978.2:c.5586A>G	NP_001124450.1:p.Lys1862=
NM_001130979.2:c.5616A>G	NP_001124451.1:p.Lys1872=
NM_001130980.2:c.5574A>G	NP_001124452.1:p.Lys1858=
NM_001130981.2:c.5637A>G	NP_001124453.1:p.Lys1879=
NM_001130982.2:c.5619A>G	NP_001124454.1:p.Lys1873=
NM_001130983.2:c.5589A>G	NP_001124455.1:p.Lys1863=
NM_001130984.2:c.5547A>G	NP_001124456.1:p.Lys1849=
NM_001130985.2:c.5577A>G	NP_001124457.1:p.Lys1859=
NM_001130986.2:c.5484A>G	NP_001124458.1:p.Lys1828=
NM_003494.4:c.5523A>G MANE Plus Clinical	NP_003485.1:p.Lys1841=