Canonical Allele Identifier: CA347222930

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896297A>T (hg19) ; chr2:g.71669167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669167A>T , CM000664.2:g.71669167A>T	GRCh38
NC_000002.11:g.71896297A>T , CM000664.1:g.71896297A>T	GRCh37
NC_000002.10:g.71749805A>T	NCBI36
NG_008694.1:g.220545A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3016A>T	ENSP00000513536.1:p.Ser1006Cys
ENST00000698058.1:c.2233A>T	ENSP00000513537.1:p.Ser745Cys
ENST00000698059.1:c.2341A>T	ENSP00000513538.1:p.Ser781Cys
ENST00000258104.8:c.5485A>T MANE Plus Clinical	ENSP00000258104.3:p.Ser1829Cys
ENST00000410020.8:c.5602A>T MANE Select	ENSP00000386881.3:p.Ser1868Cys
ENST00000258104.7:c.5485A>T	ENSP00000258104.3:p.Ser1829Cys
ENST00000394120.6:c.5488A>T	ENSP00000377678.2:p.Ser1830Cys
ENST00000409366.5:c.5551A>T	ENSP00000386512.1:p.Ser1851Cys
ENST00000409582.7:c.5599A>T	ENSP00000386547.3:p.Ser1867Cys
ENST00000409651.5:c.5581A>T	ENSP00000386683.1:p.Ser1861Cys
ENST00000409744.5:c.5509A>T	ENSP00000386285.1:p.Ser1837Cys
ENST00000409762.5:c.5536A>T	ENSP00000387137.1:p.Ser1846Cys
ENST00000410020.7:c.5602A>T	ENSP00000386881.3:p.Ser1868Cys
ENST00000410041.1:c.5539A>T	ENSP00000386617.1:p.Ser1847Cys
ENST00000413539.6:c.5578A>T	ENSP00000407046.2:p.Ser1860Cys
ENST00000429174.6:c.5548A>T	ENSP00000398305.2:p.Ser1850Cys
ENST00000479049.6:n.2370A>T
NM_001130455.1:c.5488A>T	NP_001123927.1:p.Ser1830Cys
NM_001130976.1:c.5443A>T	NP_001124448.1:p.Ser1815Cys
NM_001130977.1:c.5506A>T	NP_001124449.1:p.Ser1836Cys
NM_001130978.1:c.5548A>T	NP_001124450.1:p.Ser1850Cys
NM_001130979.1:c.5578A>T	NP_001124451.1:p.Ser1860Cys
NM_001130980.1:c.5536A>T	NP_001124452.1:p.Ser1846Cys
NM_001130981.1:c.5599A>T	NP_001124453.1:p.Ser1867Cys
NM_001130982.1:c.5581A>T	NP_001124454.1:p.Ser1861Cys
NM_001130983.1:c.5551A>T	NP_001124455.1:p.Ser1851Cys
NM_001130984.1:c.5509A>T	NP_001124456.1:p.Ser1837Cys
NM_001130985.1:c.5539A>T	NP_001124457.1:p.Ser1847Cys
NM_001130986.1:c.5446A>T	NP_001124458.1:p.Ser1816Cys
NM_001130987.1:c.5602A>T	NP_001124459.1:p.Ser1868Cys
NM_003494.3:c.5485A>T	NP_003485.1:p.Ser1829Cys
XM_005264584.3:c.5644A>T	XP_005264641.1:p.Ser1882Cys
XM_005264585.3:c.5641A>T	XP_005264642.1:p.Ser1881Cys
XM_005264584.4:c.5644A>T	XP_005264641.1:p.Ser1882Cys
XM_005264585.5:c.5641A>T	XP_005264642.1:p.Ser1881Cys
NM_001130987.2:c.5602A>T MANE Select	NP_001124459.1:p.Ser1868Cys
NM_001130455.2:c.5488A>T	NP_001123927.1:p.Ser1830Cys
NM_001130976.2:c.5443A>T	NP_001124448.1:p.Ser1815Cys
NM_001130977.2:c.5506A>T	NP_001124449.1:p.Ser1836Cys
NM_001130978.2:c.5548A>T	NP_001124450.1:p.Ser1850Cys
NM_001130979.2:c.5578A>T	NP_001124451.1:p.Ser1860Cys
NM_001130980.2:c.5536A>T	NP_001124452.1:p.Ser1846Cys
NM_001130981.2:c.5599A>T	NP_001124453.1:p.Ser1867Cys
NM_001130982.2:c.5581A>T	NP_001124454.1:p.Ser1861Cys
NM_001130983.2:c.5551A>T	NP_001124455.1:p.Ser1851Cys
NM_001130984.2:c.5509A>T	NP_001124456.1:p.Ser1837Cys
NM_001130985.2:c.5539A>T	NP_001124457.1:p.Ser1847Cys
NM_001130986.2:c.5446A>T	NP_001124458.1:p.Ser1816Cys
NM_003494.4:c.5485A>T MANE Plus Clinical	NP_003485.1:p.Ser1829Cys