Canonical Allele Identifier: CA426704410

Gene: DYSF

Linked Data

• COSMIC: COSM5397341 ; COSM5397342
• MyVariant Identifiers: chr2:g.71896281G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669151G>A , CM000664.2:g.71669151G>A	GRCh38
NC_000002.11:g.71896281G>A , CM000664.1:g.71896281G>A	GRCh37
NC_000002.10:g.71749789G>A	NCBI36
NG_008694.1:g.220529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3000G>A	ENSP00000513536.1:p.Val1000=
ENST00000698058.1:c.2217G>A	ENSP00000513537.1:p.Val739=
ENST00000698059.1:c.2325G>A	ENSP00000513538.1:p.Val775=
ENST00000258104.8:c.5469G>A MANE Plus Clinical	ENSP00000258104.3:p.Val1823=
ENST00000410020.8:c.5586G>A MANE Select	ENSP00000386881.3:p.Val1862=
ENST00000258104.7:c.5469G>A	ENSP00000258104.3:p.Val1823=
ENST00000394120.6:c.5472G>A	ENSP00000377678.2:p.Val1824=
ENST00000409366.5:c.5535G>A	ENSP00000386512.1:p.Val1845=
ENST00000409582.7:c.5583G>A	ENSP00000386547.3:p.Val1861=
ENST00000409651.5:c.5565G>A	ENSP00000386683.1:p.Val1855=
ENST00000409744.5:c.5493G>A	ENSP00000386285.1:p.Val1831=
ENST00000409762.5:c.5520G>A	ENSP00000387137.1:p.Val1840=
ENST00000410020.7:c.5586G>A	ENSP00000386881.3:p.Val1862=
ENST00000410041.1:c.5523G>A	ENSP00000386617.1:p.Val1841=
ENST00000413539.6:c.5562G>A	ENSP00000407046.2:p.Val1854=
ENST00000429174.6:c.5532G>A	ENSP00000398305.2:p.Val1844=
ENST00000479049.6:n.2354G>A
NM_001130455.1:c.5472G>A	NP_001123927.1:p.Val1824=
NM_001130976.1:c.5427G>A	NP_001124448.1:p.Val1809=
NM_001130977.1:c.5490G>A	NP_001124449.1:p.Val1830=
NM_001130978.1:c.5532G>A	NP_001124450.1:p.Val1844=
NM_001130979.1:c.5562G>A	NP_001124451.1:p.Val1854=
NM_001130980.1:c.5520G>A	NP_001124452.1:p.Val1840=
NM_001130981.1:c.5583G>A	NP_001124453.1:p.Val1861=
NM_001130982.1:c.5565G>A	NP_001124454.1:p.Val1855=
NM_001130983.1:c.5535G>A	NP_001124455.1:p.Val1845=
NM_001130984.1:c.5493G>A	NP_001124456.1:p.Val1831=
NM_001130985.1:c.5523G>A	NP_001124457.1:p.Val1841=
NM_001130986.1:c.5430G>A	NP_001124458.1:p.Val1810=
NM_001130987.1:c.5586G>A	NP_001124459.1:p.Val1862=
NM_003494.3:c.5469G>A	NP_003485.1:p.Val1823=
XM_005264584.3:c.5628G>A	XP_005264641.1:p.Val1876=
XM_005264585.3:c.5625G>A	XP_005264642.1:p.Val1875=
XM_005264584.4:c.5628G>A	XP_005264641.1:p.Val1876=
XM_005264585.5:c.5625G>A	XP_005264642.1:p.Val1875=
NM_001130987.2:c.5586G>A MANE Select	NP_001124459.1:p.Val1862=
NM_001130455.2:c.5472G>A	NP_001123927.1:p.Val1824=
NM_001130976.2:c.5427G>A	NP_001124448.1:p.Val1809=
NM_001130977.2:c.5490G>A	NP_001124449.1:p.Val1830=
NM_001130978.2:c.5532G>A	NP_001124450.1:p.Val1844=
NM_001130979.2:c.5562G>A	NP_001124451.1:p.Val1854=
NM_001130980.2:c.5520G>A	NP_001124452.1:p.Val1840=
NM_001130981.2:c.5583G>A	NP_001124453.1:p.Val1861=
NM_001130982.2:c.5565G>A	NP_001124454.1:p.Val1855=
NM_001130983.2:c.5535G>A	NP_001124455.1:p.Val1845=
NM_001130984.2:c.5493G>A	NP_001124456.1:p.Val1831=
NM_001130985.2:c.5523G>A	NP_001124457.1:p.Val1841=
NM_001130986.2:c.5430G>A	NP_001124458.1:p.Val1810=
NM_003494.4:c.5469G>A MANE Plus Clinical	NP_003485.1:p.Val1823=