Canonical Allele Identifier: CA347220291

Gene: DYSF

Linked Data

• ClinVar Variation Id: 497674
• ClinVar RCV Id: RCV000592288 ; RCV001867926
• dbSNP Id: rs1553412643
• gnomAD v4: 2-71664324-A-G
• MyVariant Identifiers: chr2:g.71891454A>G (hg19) ; chr2:g.71664324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71664324A>G , CM000664.2:g.71664324A>G	GRCh38
NC_000002.11:g.71891454A>G , CM000664.1:g.71891454A>G	GRCh37
NC_000002.10:g.71744962A>G	NCBI36
NG_008694.1:g.215702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2474A>G	ENSP00000513536.1:p.Tyr825Cys
ENST00000698058.1:c.1691A>G	ENSP00000513537.1:p.Tyr564Cys
ENST00000698059.1:c.1799A>G	ENSP00000513538.1:p.Tyr600Cys
ENST00000258104.8:c.4943A>G MANE Plus Clinical	ENSP00000258104.3:p.Tyr1648Cys
ENST00000410020.8:c.5060A>G MANE Select	ENSP00000386881.3:p.Tyr1687Cys
ENST00000258104.7:c.4943A>G	ENSP00000258104.3:p.Tyr1648Cys
ENST00000394120.6:c.4946A>G	ENSP00000377678.2:p.Tyr1649Cys
ENST00000409366.5:c.5009A>G	ENSP00000386512.1:p.Tyr1670Cys
ENST00000409582.7:c.5057A>G	ENSP00000386547.3:p.Tyr1686Cys
ENST00000409651.5:c.5039A>G	ENSP00000386683.1:p.Tyr1680Cys
ENST00000409744.5:c.4967A>G	ENSP00000386285.1:p.Tyr1656Cys
ENST00000409762.5:c.4994A>G	ENSP00000387137.1:p.Tyr1665Cys
ENST00000410020.7:c.5060A>G	ENSP00000386881.3:p.Tyr1687Cys
ENST00000410041.1:c.4997A>G	ENSP00000386617.1:p.Tyr1666Cys
ENST00000413539.6:c.5036A>G	ENSP00000407046.2:p.Tyr1679Cys
ENST00000429174.6:c.5006A>G	ENSP00000398305.2:p.Tyr1669Cys
ENST00000479049.6:n.1828A>G
NM_001130455.1:c.4946A>G	NP_001123927.1:p.Tyr1649Cys
NM_001130976.1:c.4901A>G	NP_001124448.1:p.Tyr1634Cys
NM_001130977.1:c.4964A>G	NP_001124449.1:p.Tyr1655Cys
NM_001130978.1:c.5006A>G	NP_001124450.1:p.Tyr1669Cys
NM_001130979.1:c.5036A>G	NP_001124451.1:p.Tyr1679Cys
NM_001130980.1:c.4994A>G	NP_001124452.1:p.Tyr1665Cys
NM_001130981.1:c.5057A>G	NP_001124453.1:p.Tyr1686Cys
NM_001130982.1:c.5039A>G	NP_001124454.1:p.Tyr1680Cys
NM_001130983.1:c.5009A>G	NP_001124455.1:p.Tyr1670Cys
NM_001130984.1:c.4967A>G	NP_001124456.1:p.Tyr1656Cys
NM_001130985.1:c.4997A>G	NP_001124457.1:p.Tyr1666Cys
NM_001130986.1:c.4904A>G	NP_001124458.1:p.Tyr1635Cys
NM_001130987.1:c.5060A>G	NP_001124459.1:p.Tyr1687Cys
NM_003494.3:c.4943A>G	NP_003485.1:p.Tyr1648Cys
XM_005264584.3:c.5102A>G	XP_005264641.1:p.Tyr1701Cys
XM_005264585.3:c.5099A>G	XP_005264642.1:p.Tyr1700Cys
XM_005264584.4:c.5102A>G	XP_005264641.1:p.Tyr1701Cys
XM_005264585.5:c.5099A>G	XP_005264642.1:p.Tyr1700Cys
XR_001738969.1:n.5260A>G
NM_001130987.2:c.5060A>G MANE Select	NP_001124459.1:p.Tyr1687Cys
NM_001130455.2:c.4946A>G	NP_001123927.1:p.Tyr1649Cys
NM_001130976.2:c.4901A>G	NP_001124448.1:p.Tyr1634Cys
NM_001130977.2:c.4964A>G	NP_001124449.1:p.Tyr1655Cys
NM_001130978.2:c.5006A>G	NP_001124450.1:p.Tyr1669Cys
NM_001130979.2:c.5036A>G	NP_001124451.1:p.Tyr1679Cys
NM_001130980.2:c.4994A>G	NP_001124452.1:p.Tyr1665Cys
NM_001130981.2:c.5057A>G	NP_001124453.1:p.Tyr1686Cys
NM_001130982.2:c.5039A>G	NP_001124454.1:p.Tyr1680Cys
NM_001130983.2:c.5009A>G	NP_001124455.1:p.Tyr1670Cys
NM_001130984.2:c.4967A>G	NP_001124456.1:p.Tyr1656Cys
NM_001130985.2:c.4997A>G	NP_001124457.1:p.Tyr1666Cys
NM_001130986.2:c.4904A>G	NP_001124458.1:p.Tyr1635Cys
NM_003494.4:c.4943A>G MANE Plus Clinical	NP_003485.1:p.Tyr1648Cys