Canonical Allele Identifier: CA347226558

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906340A>C (hg19) ; chr2:g.71679210A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679210A>C , CM000664.2:g.71679210A>C	GRCh38
NC_000002.11:g.71906340A>C , CM000664.1:g.71906340A>C	GRCh37
NC_000002.10:g.71759848A>C	NCBI36
NG_008694.1:g.230588A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3452A>C	ENSP00000513536.1:p.Glu1151Ala
ENST00000698058.1:c.2669A>C	ENSP00000513537.1:p.Glu890Ala
ENST00000698059.1:c.2777A>C	ENSP00000513538.1:p.Glu926Ala
ENST00000258104.8:c.5921A>C MANE Plus Clinical	ENSP00000258104.3:p.Glu1974Ala
ENST00000410020.8:c.6038A>C MANE Select	ENSP00000386881.3:p.Glu2013Ala
ENST00000258104.7:c.5921A>C	ENSP00000258104.3:p.Glu1974Ala
ENST00000394120.6:c.5924A>C	ENSP00000377678.2:p.Glu1975Ala
ENST00000409366.5:c.5987A>C	ENSP00000386512.1:p.Glu1996Ala
ENST00000409582.7:c.6035A>C	ENSP00000386547.3:p.Glu2012Ala
ENST00000409651.5:c.6017A>C	ENSP00000386683.1:p.Glu2006Ala
ENST00000409744.5:c.5945A>C	ENSP00000386285.1:p.Glu1982Ala
ENST00000409762.5:c.5972A>C	ENSP00000387137.1:p.Glu1991Ala
ENST00000410020.7:c.6038A>C	ENSP00000386881.3:p.Glu2013Ala
ENST00000410041.1:c.5975A>C	ENSP00000386617.1:p.Glu1992Ala
ENST00000413539.6:c.6014A>C	ENSP00000407046.2:p.Glu2005Ala
ENST00000429174.6:c.5984A>C	ENSP00000398305.2:p.Glu1995Ala
ENST00000479049.6:n.2806A>C
NM_001130455.1:c.5924A>C	NP_001123927.1:p.Glu1975Ala
NM_001130976.1:c.5879A>C	NP_001124448.1:p.Glu1960Ala
NM_001130977.1:c.5942A>C	NP_001124449.1:p.Glu1981Ala
NM_001130978.1:c.5984A>C	NP_001124450.1:p.Glu1995Ala
NM_001130979.1:c.6014A>C	NP_001124451.1:p.Glu2005Ala
NM_001130980.1:c.5972A>C	NP_001124452.1:p.Glu1991Ala
NM_001130981.1:c.6035A>C	NP_001124453.1:p.Glu2012Ala
NM_001130982.1:c.6017A>C	NP_001124454.1:p.Glu2006Ala
NM_001130983.1:c.5987A>C	NP_001124455.1:p.Glu1996Ala
NM_001130984.1:c.5945A>C	NP_001124456.1:p.Glu1982Ala
NM_001130985.1:c.5975A>C	NP_001124457.1:p.Glu1992Ala
NM_001130986.1:c.5882A>C	NP_001124458.1:p.Glu1961Ala
NM_001130987.1:c.6038A>C	NP_001124459.1:p.Glu2013Ala
NM_003494.3:c.5921A>C	NP_003485.1:p.Glu1974Ala
XM_005264584.3:c.6080A>C	XP_005264641.1:p.Glu2027Ala
XM_005264585.3:c.6077A>C	XP_005264642.1:p.Glu2026Ala
XM_005264584.4:c.6080A>C	XP_005264641.1:p.Glu2027Ala
XM_005264585.5:c.6077A>C	XP_005264642.1:p.Glu2026Ala
NM_001130987.2:c.6038A>C MANE Select	NP_001124459.1:p.Glu2013Ala
NM_001130455.2:c.5924A>C	NP_001123927.1:p.Glu1975Ala
NM_001130976.2:c.5879A>C	NP_001124448.1:p.Glu1960Ala
NM_001130977.2:c.5942A>C	NP_001124449.1:p.Glu1981Ala
NM_001130978.2:c.5984A>C	NP_001124450.1:p.Glu1995Ala
NM_001130979.2:c.6014A>C	NP_001124451.1:p.Glu2005Ala
NM_001130980.2:c.5972A>C	NP_001124452.1:p.Glu1991Ala
NM_001130981.2:c.6035A>C	NP_001124453.1:p.Glu2012Ala
NM_001130982.2:c.6017A>C	NP_001124454.1:p.Glu2006Ala
NM_001130983.2:c.5987A>C	NP_001124455.1:p.Glu1996Ala
NM_001130984.2:c.5945A>C	NP_001124456.1:p.Glu1982Ala
NM_001130985.2:c.5975A>C	NP_001124457.1:p.Glu1992Ala
NM_001130986.2:c.5882A>C	NP_001124458.1:p.Glu1961Ala
NM_003494.4:c.5921A>C MANE Plus Clinical	NP_003485.1:p.Glu1974Ala