Canonical Allele Identifier: CA347226529

Gene: DYSF

Linked Data

• ClinVar Variation Id: 501582
• ClinVar RCV Id: RCV000596899
• dbSNP Id: rs1553420858
• MyVariant Identifiers: chr2:g.71906330T>C (hg19) ; chr2:g.71679200T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679200T>C , CM000664.2:g.71679200T>C	GRCh38
NC_000002.11:g.71906330T>C , CM000664.1:g.71906330T>C	GRCh37
NC_000002.10:g.71759838T>C	NCBI36
NG_008694.1:g.230578T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3442T>C	ENSP00000513536.1:p.Cys1148Arg
ENST00000698058.1:c.2659T>C	ENSP00000513537.1:p.Cys887Arg
ENST00000698059.1:c.2767T>C	ENSP00000513538.1:p.Cys923Arg
ENST00000258104.8:c.5911T>C MANE Plus Clinical	ENSP00000258104.3:p.Cys1971Arg
ENST00000410020.8:c.6028T>C MANE Select	ENSP00000386881.3:p.Cys2010Arg
ENST00000258104.7:c.5911T>C	ENSP00000258104.3:p.Cys1971Arg
ENST00000394120.6:c.5914T>C	ENSP00000377678.2:p.Cys1972Arg
ENST00000409366.5:c.5977T>C	ENSP00000386512.1:p.Cys1993Arg
ENST00000409582.7:c.6025T>C	ENSP00000386547.3:p.Cys2009Arg
ENST00000409651.5:c.6007T>C	ENSP00000386683.1:p.Cys2003Arg
ENST00000409744.5:c.5935T>C	ENSP00000386285.1:p.Cys1979Arg
ENST00000409762.5:c.5962T>C	ENSP00000387137.1:p.Cys1988Arg
ENST00000410020.7:c.6028T>C	ENSP00000386881.3:p.Cys2010Arg
ENST00000410041.1:c.5965T>C	ENSP00000386617.1:p.Cys1989Arg
ENST00000413539.6:c.6004T>C	ENSP00000407046.2:p.Cys2002Arg
ENST00000429174.6:c.5974T>C	ENSP00000398305.2:p.Cys1992Arg
ENST00000479049.6:n.2796T>C
NM_001130455.1:c.5914T>C	NP_001123927.1:p.Cys1972Arg
NM_001130976.1:c.5869T>C	NP_001124448.1:p.Cys1957Arg
NM_001130977.1:c.5932T>C	NP_001124449.1:p.Cys1978Arg
NM_001130978.1:c.5974T>C	NP_001124450.1:p.Cys1992Arg
NM_001130979.1:c.6004T>C	NP_001124451.1:p.Cys2002Arg
NM_001130980.1:c.5962T>C	NP_001124452.1:p.Cys1988Arg
NM_001130981.1:c.6025T>C	NP_001124453.1:p.Cys2009Arg
NM_001130982.1:c.6007T>C	NP_001124454.1:p.Cys2003Arg
NM_001130983.1:c.5977T>C	NP_001124455.1:p.Cys1993Arg
NM_001130984.1:c.5935T>C	NP_001124456.1:p.Cys1979Arg
NM_001130985.1:c.5965T>C	NP_001124457.1:p.Cys1989Arg
NM_001130986.1:c.5872T>C	NP_001124458.1:p.Cys1958Arg
NM_001130987.1:c.6028T>C	NP_001124459.1:p.Cys2010Arg
NM_003494.3:c.5911T>C	NP_003485.1:p.Cys1971Arg
XM_005264584.3:c.6070T>C	XP_005264641.1:p.Cys2024Arg
XM_005264585.3:c.6067T>C	XP_005264642.1:p.Cys2023Arg
XM_005264584.4:c.6070T>C	XP_005264641.1:p.Cys2024Arg
XM_005264585.5:c.6067T>C	XP_005264642.1:p.Cys2023Arg
NM_001130987.2:c.6028T>C MANE Select	NP_001124459.1:p.Cys2010Arg
NM_001130455.2:c.5914T>C	NP_001123927.1:p.Cys1972Arg
NM_001130976.2:c.5869T>C	NP_001124448.1:p.Cys1957Arg
NM_001130977.2:c.5932T>C	NP_001124449.1:p.Cys1978Arg
NM_001130978.2:c.5974T>C	NP_001124450.1:p.Cys1992Arg
NM_001130979.2:c.6004T>C	NP_001124451.1:p.Cys2002Arg
NM_001130980.2:c.5962T>C	NP_001124452.1:p.Cys1988Arg
NM_001130981.2:c.6025T>C	NP_001124453.1:p.Cys2009Arg
NM_001130982.2:c.6007T>C	NP_001124454.1:p.Cys2003Arg
NM_001130983.2:c.5977T>C	NP_001124455.1:p.Cys1993Arg
NM_001130984.2:c.5935T>C	NP_001124456.1:p.Cys1979Arg
NM_001130985.2:c.5965T>C	NP_001124457.1:p.Cys1989Arg
NM_001130986.2:c.5872T>C	NP_001124458.1:p.Cys1958Arg
NM_003494.4:c.5911T>C MANE Plus Clinical	NP_003485.1:p.Cys1971Arg