Canonical Allele Identifier: CA347226543

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906334T>G (hg19) ; chr2:g.71679204T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679204T>G , CM000664.2:g.71679204T>G	GRCh38
NC_000002.11:g.71906334T>G , CM000664.1:g.71906334T>G	GRCh37
NC_000002.10:g.71759842T>G	NCBI36
NG_008694.1:g.230582T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3446T>G	ENSP00000513536.1:p.Val1149Gly
ENST00000698058.1:c.2663T>G	ENSP00000513537.1:p.Val888Gly
ENST00000698059.1:c.2771T>G	ENSP00000513538.1:p.Val924Gly
ENST00000258104.8:c.5915T>G MANE Plus Clinical	ENSP00000258104.3:p.Val1972Gly
ENST00000410020.8:c.6032T>G MANE Select	ENSP00000386881.3:p.Val2011Gly
ENST00000258104.7:c.5915T>G	ENSP00000258104.3:p.Val1972Gly
ENST00000394120.6:c.5918T>G	ENSP00000377678.2:p.Val1973Gly
ENST00000409366.5:c.5981T>G	ENSP00000386512.1:p.Val1994Gly
ENST00000409582.7:c.6029T>G	ENSP00000386547.3:p.Val2010Gly
ENST00000409651.5:c.6011T>G	ENSP00000386683.1:p.Val2004Gly
ENST00000409744.5:c.5939T>G	ENSP00000386285.1:p.Val1980Gly
ENST00000409762.5:c.5966T>G	ENSP00000387137.1:p.Val1989Gly
ENST00000410020.7:c.6032T>G	ENSP00000386881.3:p.Val2011Gly
ENST00000410041.1:c.5969T>G	ENSP00000386617.1:p.Val1990Gly
ENST00000413539.6:c.6008T>G	ENSP00000407046.2:p.Val2003Gly
ENST00000429174.6:c.5978T>G	ENSP00000398305.2:p.Val1993Gly
ENST00000479049.6:n.2800T>G
NM_001130455.1:c.5918T>G	NP_001123927.1:p.Val1973Gly
NM_001130976.1:c.5873T>G	NP_001124448.1:p.Val1958Gly
NM_001130977.1:c.5936T>G	NP_001124449.1:p.Val1979Gly
NM_001130978.1:c.5978T>G	NP_001124450.1:p.Val1993Gly
NM_001130979.1:c.6008T>G	NP_001124451.1:p.Val2003Gly
NM_001130980.1:c.5966T>G	NP_001124452.1:p.Val1989Gly
NM_001130981.1:c.6029T>G	NP_001124453.1:p.Val2010Gly
NM_001130982.1:c.6011T>G	NP_001124454.1:p.Val2004Gly
NM_001130983.1:c.5981T>G	NP_001124455.1:p.Val1994Gly
NM_001130984.1:c.5939T>G	NP_001124456.1:p.Val1980Gly
NM_001130985.1:c.5969T>G	NP_001124457.1:p.Val1990Gly
NM_001130986.1:c.5876T>G	NP_001124458.1:p.Val1959Gly
NM_001130987.1:c.6032T>G	NP_001124459.1:p.Val2011Gly
NM_003494.3:c.5915T>G	NP_003485.1:p.Val1972Gly
XM_005264584.3:c.6074T>G	XP_005264641.1:p.Val2025Gly
XM_005264585.3:c.6071T>G	XP_005264642.1:p.Val2024Gly
XM_005264584.4:c.6074T>G	XP_005264641.1:p.Val2025Gly
XM_005264585.5:c.6071T>G	XP_005264642.1:p.Val2024Gly
NM_001130987.2:c.6032T>G MANE Select	NP_001124459.1:p.Val2011Gly
NM_001130455.2:c.5918T>G	NP_001123927.1:p.Val1973Gly
NM_001130976.2:c.5873T>G	NP_001124448.1:p.Val1958Gly
NM_001130977.2:c.5936T>G	NP_001124449.1:p.Val1979Gly
NM_001130978.2:c.5978T>G	NP_001124450.1:p.Val1993Gly
NM_001130979.2:c.6008T>G	NP_001124451.1:p.Val2003Gly
NM_001130980.2:c.5966T>G	NP_001124452.1:p.Val1989Gly
NM_001130981.2:c.6029T>G	NP_001124453.1:p.Val2010Gly
NM_001130982.2:c.6011T>G	NP_001124454.1:p.Val2004Gly
NM_001130983.2:c.5981T>G	NP_001124455.1:p.Val1994Gly
NM_001130984.2:c.5939T>G	NP_001124456.1:p.Val1980Gly
NM_001130985.2:c.5969T>G	NP_001124457.1:p.Val1990Gly
NM_001130986.2:c.5876T>G	NP_001124458.1:p.Val1959Gly
NM_003494.4:c.5915T>G MANE Plus Clinical	NP_003485.1:p.Val1972Gly