Canonical Allele Identifier: CA426704530

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896858C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669728C>A , CM000664.2:g.71669728C>A	GRCh38
NC_000002.11:g.71896858C>A , CM000664.1:g.71896858C>A	GRCh37
NC_000002.10:g.71750366C>A	NCBI36
NG_008694.1:g.221106C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3180C>A	ENSP00000513536.1:p.Val1060=
ENST00000698058.1:c.2397C>A	ENSP00000513537.1:p.Val799=
ENST00000698059.1:c.2505C>A	ENSP00000513538.1:p.Val835=
ENST00000258104.8:c.5649C>A MANE Plus Clinical	ENSP00000258104.3:p.Val1883=
ENST00000410020.8:c.5766C>A MANE Select	ENSP00000386881.3:p.Val1922=
ENST00000258104.7:c.5649C>A	ENSP00000258104.3:p.Val1883=
ENST00000394120.6:c.5652C>A	ENSP00000377678.2:p.Val1884=
ENST00000409366.5:c.5715C>A	ENSP00000386512.1:p.Val1905=
ENST00000409582.7:c.5763C>A	ENSP00000386547.3:p.Val1921=
ENST00000409651.5:c.5745C>A	ENSP00000386683.1:p.Val1915=
ENST00000409744.5:c.5673C>A	ENSP00000386285.1:p.Val1891=
ENST00000409762.5:c.5700C>A	ENSP00000387137.1:p.Val1900=
ENST00000410020.7:c.5766C>A	ENSP00000386881.3:p.Val1922=
ENST00000410041.1:c.5703C>A	ENSP00000386617.1:p.Val1901=
ENST00000413539.6:c.5742C>A	ENSP00000407046.2:p.Val1914=
ENST00000429174.6:c.5712C>A	ENSP00000398305.2:p.Val1904=
ENST00000479049.6:n.2534C>A
NM_001130455.1:c.5652C>A	NP_001123927.1:p.Val1884=
NM_001130976.1:c.5607C>A	NP_001124448.1:p.Val1869=
NM_001130977.1:c.5670C>A	NP_001124449.1:p.Val1890=
NM_001130978.1:c.5712C>A	NP_001124450.1:p.Val1904=
NM_001130979.1:c.5742C>A	NP_001124451.1:p.Val1914=
NM_001130980.1:c.5700C>A	NP_001124452.1:p.Val1900=
NM_001130981.1:c.5763C>A	NP_001124453.1:p.Val1921=
NM_001130982.1:c.5745C>A	NP_001124454.1:p.Val1915=
NM_001130983.1:c.5715C>A	NP_001124455.1:p.Val1905=
NM_001130984.1:c.5673C>A	NP_001124456.1:p.Val1891=
NM_001130985.1:c.5703C>A	NP_001124457.1:p.Val1901=
NM_001130986.1:c.5610C>A	NP_001124458.1:p.Val1870=
NM_001130987.1:c.5766C>A	NP_001124459.1:p.Val1922=
NM_003494.3:c.5649C>A	NP_003485.1:p.Val1883=
XM_005264584.3:c.5808C>A	XP_005264641.1:p.Val1936=
XM_005264585.3:c.5805C>A	XP_005264642.1:p.Val1935=
XM_005264584.4:c.5808C>A	XP_005264641.1:p.Val1936=
XM_005264585.5:c.5805C>A	XP_005264642.1:p.Val1935=
NM_001130987.2:c.5766C>A MANE Select	NP_001124459.1:p.Val1922=
NM_001130455.2:c.5652C>A	NP_001123927.1:p.Val1884=
NM_001130976.2:c.5607C>A	NP_001124448.1:p.Val1869=
NM_001130977.2:c.5670C>A	NP_001124449.1:p.Val1890=
NM_001130978.2:c.5712C>A	NP_001124450.1:p.Val1904=
NM_001130979.2:c.5742C>A	NP_001124451.1:p.Val1914=
NM_001130980.2:c.5700C>A	NP_001124452.1:p.Val1900=
NM_001130981.2:c.5763C>A	NP_001124453.1:p.Val1921=
NM_001130982.2:c.5745C>A	NP_001124454.1:p.Val1915=
NM_001130983.2:c.5715C>A	NP_001124455.1:p.Val1905=
NM_001130984.2:c.5673C>A	NP_001124456.1:p.Val1891=
NM_001130985.2:c.5703C>A	NP_001124457.1:p.Val1901=
NM_001130986.2:c.5610C>A	NP_001124458.1:p.Val1870=
NM_003494.4:c.5649C>A MANE Plus Clinical	NP_003485.1:p.Val1883=