Canonical Allele Identifier: CA347217808

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71871105T>G (hg19) ; chr2:g.71643975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71643975T>G , CM000664.2:g.71643975T>G	GRCh38
NC_000002.11:g.71871105T>G , CM000664.1:g.71871105T>G	GRCh37
NC_000002.10:g.71724613T>G	NCBI36
NG_008694.1:g.195353T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1952T>G	ENSP00000513536.1:p.Phe651Cys
ENST00000698058.1:c.1169T>G	ENSP00000513537.1:p.Phe390Cys
ENST00000698059.1:c.1277T>G	ENSP00000513538.1:p.Phe426Cys
ENST00000258104.8:c.4421T>G MANE Plus Clinical	ENSP00000258104.3:p.Phe1474Cys
ENST00000410020.8:c.4538T>G MANE Select	ENSP00000386881.3:p.Phe1513Cys
ENST00000258104.7:c.4421T>G	ENSP00000258104.3:p.Phe1474Cys
ENST00000394120.6:c.4424T>G	ENSP00000377678.2:p.Phe1475Cys
ENST00000409366.5:c.4487T>G	ENSP00000386512.1:p.Phe1496Cys
ENST00000409582.7:c.4535T>G	ENSP00000386547.3:p.Phe1512Cys
ENST00000409651.5:c.4517T>G	ENSP00000386683.1:p.Phe1506Cys
ENST00000409744.5:c.4445T>G	ENSP00000386285.1:p.Phe1482Cys
ENST00000409762.5:c.4472T>G	ENSP00000387137.1:p.Phe1491Cys
ENST00000410020.7:c.4538T>G	ENSP00000386881.3:p.Phe1513Cys
ENST00000410041.1:c.4475T>G	ENSP00000386617.1:p.Phe1492Cys
ENST00000413539.6:c.4514T>G	ENSP00000407046.2:p.Phe1505Cys
ENST00000429174.6:c.4484T>G	ENSP00000398305.2:p.Phe1495Cys
ENST00000468173.1:n.720T>G
ENST00000479049.6:n.1306T>G
NM_001130455.1:c.4424T>G	NP_001123927.1:p.Phe1475Cys
NM_001130976.1:c.4379T>G	NP_001124448.1:p.Phe1460Cys
NM_001130977.1:c.4442T>G	NP_001124449.1:p.Phe1481Cys
NM_001130978.1:c.4484T>G	NP_001124450.1:p.Phe1495Cys
NM_001130979.1:c.4514T>G	NP_001124451.1:p.Phe1505Cys
NM_001130980.1:c.4472T>G	NP_001124452.1:p.Phe1491Cys
NM_001130981.1:c.4535T>G	NP_001124453.1:p.Phe1512Cys
NM_001130982.1:c.4517T>G	NP_001124454.1:p.Phe1506Cys
NM_001130983.1:c.4487T>G	NP_001124455.1:p.Phe1496Cys
NM_001130984.1:c.4445T>G	NP_001124456.1:p.Phe1482Cys
NM_001130985.1:c.4475T>G	NP_001124457.1:p.Phe1492Cys
NM_001130986.1:c.4382T>G	NP_001124458.1:p.Phe1461Cys
NM_001130987.1:c.4538T>G	NP_001124459.1:p.Phe1513Cys
NM_003494.3:c.4421T>G	NP_003485.1:p.Phe1474Cys
XM_005264584.3:c.4580T>G	XP_005264641.1:p.Phe1527Cys
XM_005264585.3:c.4577T>G	XP_005264642.1:p.Phe1526Cys
XM_005264584.4:c.4580T>G	XP_005264641.1:p.Phe1527Cys
XM_005264585.5:c.4577T>G	XP_005264642.1:p.Phe1526Cys
XR_001738969.1:n.4738T>G
NM_001130987.2:c.4538T>G MANE Select	NP_001124459.1:p.Phe1513Cys
NM_001130455.2:c.4424T>G	NP_001123927.1:p.Phe1475Cys
NM_001130976.2:c.4379T>G	NP_001124448.1:p.Phe1460Cys
NM_001130977.2:c.4442T>G	NP_001124449.1:p.Phe1481Cys
NM_001130978.2:c.4484T>G	NP_001124450.1:p.Phe1495Cys
NM_001130979.2:c.4514T>G	NP_001124451.1:p.Phe1505Cys
NM_001130980.2:c.4472T>G	NP_001124452.1:p.Phe1491Cys
NM_001130981.2:c.4535T>G	NP_001124453.1:p.Phe1512Cys
NM_001130982.2:c.4517T>G	NP_001124454.1:p.Phe1506Cys
NM_001130983.2:c.4487T>G	NP_001124455.1:p.Phe1496Cys
NM_001130984.2:c.4445T>G	NP_001124456.1:p.Phe1482Cys
NM_001130985.2:c.4475T>G	NP_001124457.1:p.Phe1492Cys
NM_001130986.2:c.4382T>G	NP_001124458.1:p.Phe1461Cys
NM_003494.4:c.4421T>G MANE Plus Clinical	NP_003485.1:p.Phe1474Cys