Canonical Allele Identifier: CA347226527

Gene: DYSF

Linked Data

• gnomAD v4: 2-71679200-T-A
• MyVariant Identifiers: chr2:g.71906330T>A (hg19) ; chr2:g.71679200T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3442T>A	ENSP00000513536.1:p.Cys1148Ser
ENST00000698058.1:c.2659T>A	ENSP00000513537.1:p.Cys887Ser
ENST00000698059.1:c.2767T>A	ENSP00000513538.1:p.Cys923Ser
ENST00000258104.8:c.5911T>A MANE Plus Clinical	ENSP00000258104.3:p.Cys1971Ser
ENST00000410020.8:c.6028T>A MANE Select	ENSP00000386881.3:p.Cys2010Ser
ENST00000258104.7:c.5911T>A	ENSP00000258104.3:p.Cys1971Ser
ENST00000394120.6:c.5914T>A	ENSP00000377678.2:p.Cys1972Ser
ENST00000409366.5:c.5977T>A	ENSP00000386512.1:p.Cys1993Ser
ENST00000409582.7:c.6025T>A	ENSP00000386547.3:p.Cys2009Ser
ENST00000409651.5:c.6007T>A	ENSP00000386683.1:p.Cys2003Ser
ENST00000409744.5:c.5935T>A	ENSP00000386285.1:p.Cys1979Ser
ENST00000409762.5:c.5962T>A	ENSP00000387137.1:p.Cys1988Ser
ENST00000410020.7:c.6028T>A	ENSP00000386881.3:p.Cys2010Ser
ENST00000410041.1:c.5965T>A	ENSP00000386617.1:p.Cys1989Ser
ENST00000413539.6:c.6004T>A	ENSP00000407046.2:p.Cys2002Ser
ENST00000429174.6:c.5974T>A	ENSP00000398305.2:p.Cys1992Ser
ENST00000479049.6:n.2796T>A
NM_001130455.1:c.5914T>A	NP_001123927.1:p.Cys1972Ser
NM_001130976.1:c.5869T>A	NP_001124448.1:p.Cys1957Ser
NM_001130977.1:c.5932T>A	NP_001124449.1:p.Cys1978Ser
NM_001130978.1:c.5974T>A	NP_001124450.1:p.Cys1992Ser
NM_001130979.1:c.6004T>A	NP_001124451.1:p.Cys2002Ser
NM_001130980.1:c.5962T>A	NP_001124452.1:p.Cys1988Ser
NM_001130981.1:c.6025T>A	NP_001124453.1:p.Cys2009Ser
NM_001130982.1:c.6007T>A	NP_001124454.1:p.Cys2003Ser
NM_001130983.1:c.5977T>A	NP_001124455.1:p.Cys1993Ser
NM_001130984.1:c.5935T>A	NP_001124456.1:p.Cys1979Ser
NM_001130985.1:c.5965T>A	NP_001124457.1:p.Cys1989Ser
NM_001130986.1:c.5872T>A	NP_001124458.1:p.Cys1958Ser
NM_001130987.1:c.6028T>A	NP_001124459.1:p.Cys2010Ser
NM_003494.3:c.5911T>A	NP_003485.1:p.Cys1971Ser
XM_005264584.3:c.6070T>A	XP_005264641.1:p.Cys2024Ser
XM_005264585.3:c.6067T>A	XP_005264642.1:p.Cys2023Ser
XM_005264584.4:c.6070T>A	XP_005264641.1:p.Cys2024Ser
XM_005264585.5:c.6067T>A	XP_005264642.1:p.Cys2023Ser
NM_001130987.2:c.6028T>A MANE Select	NP_001124459.1:p.Cys2010Ser
NM_001130455.2:c.5914T>A	NP_001123927.1:p.Cys1972Ser
NM_001130976.2:c.5869T>A	NP_001124448.1:p.Cys1957Ser
NM_001130977.2:c.5932T>A	NP_001124449.1:p.Cys1978Ser
NM_001130978.2:c.5974T>A	NP_001124450.1:p.Cys1992Ser
NM_001130979.2:c.6004T>A	NP_001124451.1:p.Cys2002Ser
NM_001130980.2:c.5962T>A	NP_001124452.1:p.Cys1988Ser
NM_001130981.2:c.6025T>A	NP_001124453.1:p.Cys2009Ser
NM_001130982.2:c.6007T>A	NP_001124454.1:p.Cys2003Ser
NM_001130983.2:c.5977T>A	NP_001124455.1:p.Cys1993Ser
NM_001130984.2:c.5935T>A	NP_001124456.1:p.Cys1979Ser
NM_001130985.2:c.5965T>A	NP_001124457.1:p.Cys1989Ser
NM_001130986.2:c.5872T>A	NP_001124458.1:p.Cys1958Ser
NM_003494.4:c.5911T>A MANE Plus Clinical	NP_003485.1:p.Cys1971Ser