Canonical Allele Identifier: CA10605008

Gene: DYSF

Linked Data

• ClinVar Variation Id: 285133
• ClinVar RCV Id: RCV000304230 ; RCV000811495
• dbSNP Id: rs886042452
• gnomAD v4: 2-71681110-G-A
• MyVariant Identifiers: chr2:g.71908240G>A (hg19) ; chr2:g.71681110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71681110G>A , CM000664.2:g.71681110G>A	GRCh38
NC_000002.11:g.71908240G>A , CM000664.1:g.71908240G>A	GRCh37
NC_000002.10:g.71761748G>A	NCBI36
NG_008694.1:g.232488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3587G>A	ENSP00000513536.1:p.Arg1196Lys
ENST00000698058.1:c.2804G>A	ENSP00000513537.1:p.Arg935Lys
ENST00000698059.1:c.2912G>A	ENSP00000513538.1:p.Arg971Lys
ENST00000258104.8:c.6056G>A MANE Plus Clinical	ENSP00000258104.3:p.Arg2019Lys
ENST00000410020.8:c.6173G>A MANE Select	ENSP00000386881.3:p.Arg2058Lys
ENST00000258104.7:c.6056G>A	ENSP00000258104.3:p.Arg2019Lys
ENST00000394120.6:c.6059G>A	ENSP00000377678.2:p.Arg2020Lys
ENST00000409366.5:c.6122G>A	ENSP00000386512.1:p.Arg2041Lys
ENST00000409582.7:c.6170G>A	ENSP00000386547.3:p.Arg2057Lys
ENST00000409651.5:c.6152G>A	ENSP00000386683.1:p.Arg2051Lys
ENST00000409744.5:c.6080G>A	ENSP00000386285.1:p.Arg2027Lys
ENST00000409762.5:c.6107G>A	ENSP00000387137.1:p.Arg2036Lys
ENST00000410020.7:c.6173G>A	ENSP00000386881.3:p.Arg2058Lys
ENST00000410041.1:c.6110G>A	ENSP00000386617.1:p.Arg2037Lys
ENST00000413539.6:c.6149G>A	ENSP00000407046.2:p.Arg2050Lys
ENST00000429174.6:c.6119G>A	ENSP00000398305.2:p.Arg2040Lys
ENST00000479049.6:n.2941G>A
NM_001130455.1:c.6059G>A	NP_001123927.1:p.Arg2020Lys
NM_001130976.1:c.6014G>A	NP_001124448.1:p.Arg2005Lys
NM_001130977.1:c.6077G>A	NP_001124449.1:p.Arg2026Lys
NM_001130978.1:c.6119G>A	NP_001124450.1:p.Arg2040Lys
NM_001130979.1:c.6149G>A	NP_001124451.1:p.Arg2050Lys
NM_001130980.1:c.6107G>A	NP_001124452.1:p.Arg2036Lys
NM_001130981.1:c.6170G>A	NP_001124453.1:p.Arg2057Lys
NM_001130982.1:c.6152G>A	NP_001124454.1:p.Arg2051Lys
NM_001130983.1:c.6122G>A	NP_001124455.1:p.Arg2041Lys
NM_001130984.1:c.6080G>A	NP_001124456.1:p.Arg2027Lys
NM_001130985.1:c.6110G>A	NP_001124457.1:p.Arg2037Lys
NM_001130986.1:c.6017G>A	NP_001124458.1:p.Arg2006Lys
NM_001130987.1:c.6173G>A	NP_001124459.1:p.Arg2058Lys
NM_003494.3:c.6056G>A	NP_003485.1:p.Arg2019Lys
XM_005264584.3:c.6215G>A	XP_005264641.1:p.Arg2072Lys
XM_005264585.3:c.6212G>A	XP_005264642.1:p.Arg2071Lys
XM_005264584.4:c.6215G>A	XP_005264641.1:p.Arg2072Lys
XM_005264585.5:c.6212G>A	XP_005264642.1:p.Arg2071Lys
NM_001130987.2:c.6173G>A MANE Select	NP_001124459.1:p.Arg2058Lys
NM_001130455.2:c.6059G>A	NP_001123927.1:p.Arg2020Lys
NM_001130976.2:c.6014G>A	NP_001124448.1:p.Arg2005Lys
NM_001130977.2:c.6077G>A	NP_001124449.1:p.Arg2026Lys
NM_001130978.2:c.6119G>A	NP_001124450.1:p.Arg2040Lys
NM_001130979.2:c.6149G>A	NP_001124451.1:p.Arg2050Lys
NM_001130980.2:c.6107G>A	NP_001124452.1:p.Arg2036Lys
NM_001130981.2:c.6170G>A	NP_001124453.1:p.Arg2057Lys
NM_001130982.2:c.6152G>A	NP_001124454.1:p.Arg2051Lys
NM_001130983.2:c.6122G>A	NP_001124455.1:p.Arg2041Lys
NM_001130984.2:c.6080G>A	NP_001124456.1:p.Arg2027Lys
NM_001130985.2:c.6110G>A	NP_001124457.1:p.Arg2037Lys
NM_001130986.2:c.6017G>A	NP_001124458.1:p.Arg2006Lys
NM_003494.4:c.6056G>A MANE Plus Clinical	NP_003485.1:p.Arg2019Lys