Canonical Allele Identifier: CA347227935

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913622A>C (hg19) ; chr2:g.71686492A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686492A>C , CM000664.2:g.71686492A>C	GRCh38
NC_000002.11:g.71913622A>C , CM000664.1:g.71913622A>C	GRCh37
NC_000002.10:g.71767130A>C	NCBI36
NG_008694.1:g.237870A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3774A>C	ENSP00000513536.1:p.Ter1258Cys
ENST00000698058.1:c.2991A>C	ENSP00000513537.1:p.Ter997Cys
ENST00000698059.1:c.3099A>C	ENSP00000513538.1:p.Ter1033Cys
ENST00000258104.8:c.6243A>C MANE Plus Clinical	ENSP00000258104.3:p.Ter2081Cys
ENST00000410020.8:c.6360A>C MANE Select	ENSP00000386881.3:p.Ter2120Cys
ENST00000258104.7:c.6243A>C	ENSP00000258104.3:p.Ter2081Cys
ENST00000394120.6:c.6246A>C	ENSP00000377678.2:p.Ter2082Cys
ENST00000409366.5:c.6309A>C	ENSP00000386512.1:p.Ter2103Cys
ENST00000409582.7:c.6357A>C	ENSP00000386547.3:p.Ter2119Cys
ENST00000409651.5:c.6339A>C	ENSP00000386683.1:p.Ter2113Cys
ENST00000409744.5:c.6267A>C	ENSP00000386285.1:p.Ter2089Cys
ENST00000409762.5:c.6294A>C	ENSP00000387137.1:p.Ter2098Cys
ENST00000410020.7:c.6360A>C	ENSP00000386881.3:p.Ter2120Cys
ENST00000410041.1:c.6297A>C	ENSP00000386617.1:p.Ter2099Cys
ENST00000413539.6:c.6336A>C	ENSP00000407046.2:p.Ter2112Cys
ENST00000429174.6:c.6306A>C	ENSP00000398305.2:p.Ter2102Cys
ENST00000479049.6:n.3128A>C
NM_001130455.1:c.6246A>C	NP_001123927.1:p.Ter2082Cys
NM_001130976.1:c.6201A>C	NP_001124448.1:p.Ter2067Cys
NM_001130977.1:c.6264A>C	NP_001124449.1:p.Ter2088Cys
NM_001130978.1:c.6306A>C	NP_001124450.1:p.Ter2102Cys
NM_001130979.1:c.6336A>C	NP_001124451.1:p.Ter2112Cys
NM_001130980.1:c.6294A>C	NP_001124452.1:p.Ter2098Cys
NM_001130981.1:c.6357A>C	NP_001124453.1:p.Ter2119Cys
NM_001130982.1:c.6339A>C	NP_001124454.1:p.Ter2113Cys
NM_001130983.1:c.6309A>C	NP_001124455.1:p.Ter2103Cys
NM_001130984.1:c.6267A>C	NP_001124456.1:p.Ter2089Cys
NM_001130985.1:c.6297A>C	NP_001124457.1:p.Ter2099Cys
NM_001130986.1:c.6204A>C	NP_001124458.1:p.Ter2068Cys
NM_001130987.1:c.6360A>C	NP_001124459.1:p.Ter2120Cys
NM_003494.3:c.6243A>C	NP_003485.1:p.Ter2081Cys
XM_005264584.3:c.6402A>C	XP_005264641.1:p.Ter2134Cys
XM_005264585.3:c.6399A>C	XP_005264642.1:p.Ter2133Cys
XM_005264584.4:c.6402A>C	XP_005264641.1:p.Ter2134Cys
XM_005264585.5:c.6399A>C	XP_005264642.1:p.Ter2133Cys
NM_001130987.2:c.6360A>C MANE Select	NP_001124459.1:p.Ter2120Cys
NM_001130455.2:c.6246A>C	NP_001123927.1:p.Ter2082Cys
NM_001130976.2:c.6201A>C	NP_001124448.1:p.Ter2067Cys
NM_001130977.2:c.6264A>C	NP_001124449.1:p.Ter2088Cys
NM_001130978.2:c.6306A>C	NP_001124450.1:p.Ter2102Cys
NM_001130979.2:c.6336A>C	NP_001124451.1:p.Ter2112Cys
NM_001130980.2:c.6294A>C	NP_001124452.1:p.Ter2098Cys
NM_001130981.2:c.6357A>C	NP_001124453.1:p.Ter2119Cys
NM_001130982.2:c.6339A>C	NP_001124454.1:p.Ter2113Cys
NM_001130983.2:c.6309A>C	NP_001124455.1:p.Ter2103Cys
NM_001130984.2:c.6267A>C	NP_001124456.1:p.Ter2089Cys
NM_001130985.2:c.6297A>C	NP_001124457.1:p.Ter2099Cys
NM_001130986.2:c.6204A>C	NP_001124458.1:p.Ter2068Cys
NM_003494.4:c.6243A>C MANE Plus Clinical	NP_003485.1:p.Ter2081Cys