Canonical Allele Identifier: CA347226463

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906303C>G (hg19) ; chr2:g.71679173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679173C>G , CM000664.2:g.71679173C>G	GRCh38
NC_000002.11:g.71906303C>G , CM000664.1:g.71906303C>G	GRCh37
NC_000002.10:g.71759811C>G	NCBI36
NG_008694.1:g.230551C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3415C>G	ENSP00000513536.1:p.Gln1139Glu
ENST00000698058.1:c.2632C>G	ENSP00000513537.1:p.Gln878Glu
ENST00000698059.1:c.2740C>G	ENSP00000513538.1:p.Gln914Glu
ENST00000258104.8:c.5884C>G MANE Plus Clinical	ENSP00000258104.3:p.Gln1962Glu
ENST00000410020.8:c.6001C>G MANE Select	ENSP00000386881.3:p.Gln2001Glu
ENST00000258104.7:c.5884C>G	ENSP00000258104.3:p.Gln1962Glu
ENST00000394120.6:c.5887C>G	ENSP00000377678.2:p.Gln1963Glu
ENST00000409366.5:c.5950C>G	ENSP00000386512.1:p.Gln1984Glu
ENST00000409582.7:c.5998C>G	ENSP00000386547.3:p.Gln2000Glu
ENST00000409651.5:c.5980C>G	ENSP00000386683.1:p.Gln1994Glu
ENST00000409744.5:c.5908C>G	ENSP00000386285.1:p.Gln1970Glu
ENST00000409762.5:c.5935C>G	ENSP00000387137.1:p.Gln1979Glu
ENST00000410020.7:c.6001C>G	ENSP00000386881.3:p.Gln2001Glu
ENST00000410041.1:c.5938C>G	ENSP00000386617.1:p.Gln1980Glu
ENST00000413539.6:c.5977C>G	ENSP00000407046.2:p.Gln1993Glu
ENST00000429174.6:c.5947C>G	ENSP00000398305.2:p.Gln1983Glu
ENST00000479049.6:n.2769C>G
NM_001130455.1:c.5887C>G	NP_001123927.1:p.Gln1963Glu
NM_001130976.1:c.5842C>G	NP_001124448.1:p.Gln1948Glu
NM_001130977.1:c.5905C>G	NP_001124449.1:p.Gln1969Glu
NM_001130978.1:c.5947C>G	NP_001124450.1:p.Gln1983Glu
NM_001130979.1:c.5977C>G	NP_001124451.1:p.Gln1993Glu
NM_001130980.1:c.5935C>G	NP_001124452.1:p.Gln1979Glu
NM_001130981.1:c.5998C>G	NP_001124453.1:p.Gln2000Glu
NM_001130982.1:c.5980C>G	NP_001124454.1:p.Gln1994Glu
NM_001130983.1:c.5950C>G	NP_001124455.1:p.Gln1984Glu
NM_001130984.1:c.5908C>G	NP_001124456.1:p.Gln1970Glu
NM_001130985.1:c.5938C>G	NP_001124457.1:p.Gln1980Glu
NM_001130986.1:c.5845C>G	NP_001124458.1:p.Gln1949Glu
NM_001130987.1:c.6001C>G	NP_001124459.1:p.Gln2001Glu
NM_003494.3:c.5884C>G	NP_003485.1:p.Gln1962Glu
XM_005264584.3:c.6043C>G	XP_005264641.1:p.Gln2015Glu
XM_005264585.3:c.6040C>G	XP_005264642.1:p.Gln2014Glu
XM_005264584.4:c.6043C>G	XP_005264641.1:p.Gln2015Glu
XM_005264585.5:c.6040C>G	XP_005264642.1:p.Gln2014Glu
NM_001130987.2:c.6001C>G MANE Select	NP_001124459.1:p.Gln2001Glu
NM_001130455.2:c.5887C>G	NP_001123927.1:p.Gln1963Glu
NM_001130976.2:c.5842C>G	NP_001124448.1:p.Gln1948Glu
NM_001130977.2:c.5905C>G	NP_001124449.1:p.Gln1969Glu
NM_001130978.2:c.5947C>G	NP_001124450.1:p.Gln1983Glu
NM_001130979.2:c.5977C>G	NP_001124451.1:p.Gln1993Glu
NM_001130980.2:c.5935C>G	NP_001124452.1:p.Gln1979Glu
NM_001130981.2:c.5998C>G	NP_001124453.1:p.Gln2000Glu
NM_001130982.2:c.5980C>G	NP_001124454.1:p.Gln1994Glu
NM_001130983.2:c.5950C>G	NP_001124455.1:p.Gln1984Glu
NM_001130984.2:c.5908C>G	NP_001124456.1:p.Gln1970Glu
NM_001130985.2:c.5938C>G	NP_001124457.1:p.Gln1980Glu
NM_001130986.2:c.5845C>G	NP_001124458.1:p.Gln1949Glu
NM_003494.4:c.5884C>G MANE Plus Clinical	NP_003485.1:p.Gln1962Glu