Canonical Allele Identifier: CA347226554

Gene: DYSF

Linked Data

• gnomAD v4: 2-71679209-G-A
• MyVariant Identifiers: chr2:g.71906339G>A (hg19) ; chr2:g.71679209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679209G>A , CM000664.2:g.71679209G>A	GRCh38
NC_000002.11:g.71906339G>A , CM000664.1:g.71906339G>A	GRCh37
NC_000002.10:g.71759847G>A	NCBI36
NG_008694.1:g.230587G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3451G>A	ENSP00000513536.1:p.Glu1151Lys
ENST00000698058.1:c.2668G>A	ENSP00000513537.1:p.Glu890Lys
ENST00000698059.1:c.2776G>A	ENSP00000513538.1:p.Glu926Lys
ENST00000258104.8:c.5920G>A MANE Plus Clinical	ENSP00000258104.3:p.Glu1974Lys
ENST00000410020.8:c.6037G>A MANE Select	ENSP00000386881.3:p.Glu2013Lys
ENST00000258104.7:c.5920G>A	ENSP00000258104.3:p.Glu1974Lys
ENST00000394120.6:c.5923G>A	ENSP00000377678.2:p.Glu1975Lys
ENST00000409366.5:c.5986G>A	ENSP00000386512.1:p.Glu1996Lys
ENST00000409582.7:c.6034G>A	ENSP00000386547.3:p.Glu2012Lys
ENST00000409651.5:c.6016G>A	ENSP00000386683.1:p.Glu2006Lys
ENST00000409744.5:c.5944G>A	ENSP00000386285.1:p.Glu1982Lys
ENST00000409762.5:c.5971G>A	ENSP00000387137.1:p.Glu1991Lys
ENST00000410020.7:c.6037G>A	ENSP00000386881.3:p.Glu2013Lys
ENST00000410041.1:c.5974G>A	ENSP00000386617.1:p.Glu1992Lys
ENST00000413539.6:c.6013G>A	ENSP00000407046.2:p.Glu2005Lys
ENST00000429174.6:c.5983G>A	ENSP00000398305.2:p.Glu1995Lys
ENST00000479049.6:n.2805G>A
NM_001130455.1:c.5923G>A	NP_001123927.1:p.Glu1975Lys
NM_001130976.1:c.5878G>A	NP_001124448.1:p.Glu1960Lys
NM_001130977.1:c.5941G>A	NP_001124449.1:p.Glu1981Lys
NM_001130978.1:c.5983G>A	NP_001124450.1:p.Glu1995Lys
NM_001130979.1:c.6013G>A	NP_001124451.1:p.Glu2005Lys
NM_001130980.1:c.5971G>A	NP_001124452.1:p.Glu1991Lys
NM_001130981.1:c.6034G>A	NP_001124453.1:p.Glu2012Lys
NM_001130982.1:c.6016G>A	NP_001124454.1:p.Glu2006Lys
NM_001130983.1:c.5986G>A	NP_001124455.1:p.Glu1996Lys
NM_001130984.1:c.5944G>A	NP_001124456.1:p.Glu1982Lys
NM_001130985.1:c.5974G>A	NP_001124457.1:p.Glu1992Lys
NM_001130986.1:c.5881G>A	NP_001124458.1:p.Glu1961Lys
NM_001130987.1:c.6037G>A	NP_001124459.1:p.Glu2013Lys
NM_003494.3:c.5920G>A	NP_003485.1:p.Glu1974Lys
XM_005264584.3:c.6079G>A	XP_005264641.1:p.Glu2027Lys
XM_005264585.3:c.6076G>A	XP_005264642.1:p.Glu2026Lys
XM_005264584.4:c.6079G>A	XP_005264641.1:p.Glu2027Lys
XM_005264585.5:c.6076G>A	XP_005264642.1:p.Glu2026Lys
NM_001130987.2:c.6037G>A MANE Select	NP_001124459.1:p.Glu2013Lys
NM_001130455.2:c.5923G>A	NP_001123927.1:p.Glu1975Lys
NM_001130976.2:c.5878G>A	NP_001124448.1:p.Glu1960Lys
NM_001130977.2:c.5941G>A	NP_001124449.1:p.Glu1981Lys
NM_001130978.2:c.5983G>A	NP_001124450.1:p.Glu1995Lys
NM_001130979.2:c.6013G>A	NP_001124451.1:p.Glu2005Lys
NM_001130980.2:c.5971G>A	NP_001124452.1:p.Glu1991Lys
NM_001130981.2:c.6034G>A	NP_001124453.1:p.Glu2012Lys
NM_001130982.2:c.6016G>A	NP_001124454.1:p.Glu2006Lys
NM_001130983.2:c.5986G>A	NP_001124455.1:p.Glu1996Lys
NM_001130984.2:c.5944G>A	NP_001124456.1:p.Glu1982Lys
NM_001130985.2:c.5974G>A	NP_001124457.1:p.Glu1992Lys
NM_001130986.2:c.5881G>A	NP_001124458.1:p.Glu1961Lys
NM_003494.4:c.5920G>A MANE Plus Clinical	NP_003485.1:p.Glu1974Lys