Canonical Allele Identifier: CA347226564

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906341A>C (hg19) ; chr2:g.71679211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679211A>C , CM000664.2:g.71679211A>C	GRCh38
NC_000002.11:g.71906341A>C , CM000664.1:g.71906341A>C	GRCh37
NC_000002.10:g.71759849A>C	NCBI36
NG_008694.1:g.230589A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3453A>C	ENSP00000513536.1:p.Glu1151Asp
ENST00000698058.1:c.2670A>C	ENSP00000513537.1:p.Glu890Asp
ENST00000698059.1:c.2778A>C	ENSP00000513538.1:p.Glu926Asp
ENST00000258104.8:c.5922A>C MANE Plus Clinical	ENSP00000258104.3:p.Glu1974Asp
ENST00000410020.8:c.6039A>C MANE Select	ENSP00000386881.3:p.Glu2013Asp
ENST00000258104.7:c.5922A>C	ENSP00000258104.3:p.Glu1974Asp
ENST00000394120.6:c.5925A>C	ENSP00000377678.2:p.Glu1975Asp
ENST00000409366.5:c.5988A>C	ENSP00000386512.1:p.Glu1996Asp
ENST00000409582.7:c.6036A>C	ENSP00000386547.3:p.Glu2012Asp
ENST00000409651.5:c.6018A>C	ENSP00000386683.1:p.Glu2006Asp
ENST00000409744.5:c.5946A>C	ENSP00000386285.1:p.Glu1982Asp
ENST00000409762.5:c.5973A>C	ENSP00000387137.1:p.Glu1991Asp
ENST00000410020.7:c.6039A>C	ENSP00000386881.3:p.Glu2013Asp
ENST00000410041.1:c.5976A>C	ENSP00000386617.1:p.Glu1992Asp
ENST00000413539.6:c.6015A>C	ENSP00000407046.2:p.Glu2005Asp
ENST00000429174.6:c.5985A>C	ENSP00000398305.2:p.Glu1995Asp
ENST00000479049.6:n.2807A>C
NM_001130455.1:c.5925A>C	NP_001123927.1:p.Glu1975Asp
NM_001130976.1:c.5880A>C	NP_001124448.1:p.Glu1960Asp
NM_001130977.1:c.5943A>C	NP_001124449.1:p.Glu1981Asp
NM_001130978.1:c.5985A>C	NP_001124450.1:p.Glu1995Asp
NM_001130979.1:c.6015A>C	NP_001124451.1:p.Glu2005Asp
NM_001130980.1:c.5973A>C	NP_001124452.1:p.Glu1991Asp
NM_001130981.1:c.6036A>C	NP_001124453.1:p.Glu2012Asp
NM_001130982.1:c.6018A>C	NP_001124454.1:p.Glu2006Asp
NM_001130983.1:c.5988A>C	NP_001124455.1:p.Glu1996Asp
NM_001130984.1:c.5946A>C	NP_001124456.1:p.Glu1982Asp
NM_001130985.1:c.5976A>C	NP_001124457.1:p.Glu1992Asp
NM_001130986.1:c.5883A>C	NP_001124458.1:p.Glu1961Asp
NM_001130987.1:c.6039A>C	NP_001124459.1:p.Glu2013Asp
NM_003494.3:c.5922A>C	NP_003485.1:p.Glu1974Asp
XM_005264584.3:c.6081A>C	XP_005264641.1:p.Glu2027Asp
XM_005264585.3:c.6078A>C	XP_005264642.1:p.Glu2026Asp
XM_005264584.4:c.6081A>C	XP_005264641.1:p.Glu2027Asp
XM_005264585.5:c.6078A>C	XP_005264642.1:p.Glu2026Asp
NM_001130987.2:c.6039A>C MANE Select	NP_001124459.1:p.Glu2013Asp
NM_001130455.2:c.5925A>C	NP_001123927.1:p.Glu1975Asp
NM_001130976.2:c.5880A>C	NP_001124448.1:p.Glu1960Asp
NM_001130977.2:c.5943A>C	NP_001124449.1:p.Glu1981Asp
NM_001130978.2:c.5985A>C	NP_001124450.1:p.Glu1995Asp
NM_001130979.2:c.6015A>C	NP_001124451.1:p.Glu2005Asp
NM_001130980.2:c.5973A>C	NP_001124452.1:p.Glu1991Asp
NM_001130981.2:c.6036A>C	NP_001124453.1:p.Glu2012Asp
NM_001130982.2:c.6018A>C	NP_001124454.1:p.Glu2006Asp
NM_001130983.2:c.5988A>C	NP_001124455.1:p.Glu1996Asp
NM_001130984.2:c.5946A>C	NP_001124456.1:p.Glu1982Asp
NM_001130985.2:c.5976A>C	NP_001124457.1:p.Glu1992Asp
NM_001130986.2:c.5883A>C	NP_001124458.1:p.Glu1961Asp
NM_003494.4:c.5922A>C MANE Plus Clinical	NP_003485.1:p.Glu1974Asp