Canonical Allele Identifier: CA347223179

Gene: DYSF

Linked Data

• ClinVar Variation Id: 430739
• ClinVar RCV Id: RCV000494731
• dbSNP Id: rs1131692158
• MyVariant Identifiers: chr2:g.71896337G>A (hg19) ; chr2:g.71669207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669207G>A , CM000664.2:g.71669207G>A	GRCh38
NC_000002.11:g.71896337G>A , CM000664.1:g.71896337G>A	GRCh37
NC_000002.10:g.71749845G>A	NCBI36
NG_008694.1:g.220585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3056G>A	ENSP00000513536.1:p.Gly1019Asp
ENST00000698058.1:c.2273G>A	ENSP00000513537.1:p.Gly758Asp
ENST00000698059.1:c.2381G>A	ENSP00000513538.1:p.Gly794Asp
ENST00000258104.8:c.5525G>A MANE Plus Clinical	ENSP00000258104.3:p.Gly1842Asp
ENST00000410020.8:c.5642G>A MANE Select	ENSP00000386881.3:p.Gly1881Asp
ENST00000258104.7:c.5525G>A	ENSP00000258104.3:p.Gly1842Asp
ENST00000394120.6:c.5528G>A	ENSP00000377678.2:p.Gly1843Asp
ENST00000409366.5:c.5591G>A	ENSP00000386512.1:p.Gly1864Asp
ENST00000409582.7:c.5639G>A	ENSP00000386547.3:p.Gly1880Asp
ENST00000409651.5:c.5621G>A	ENSP00000386683.1:p.Gly1874Asp
ENST00000409744.5:c.5549G>A	ENSP00000386285.1:p.Gly1850Asp
ENST00000409762.5:c.5576G>A	ENSP00000387137.1:p.Gly1859Asp
ENST00000410020.7:c.5642G>A	ENSP00000386881.3:p.Gly1881Asp
ENST00000410041.1:c.5579G>A	ENSP00000386617.1:p.Gly1860Asp
ENST00000413539.6:c.5618G>A	ENSP00000407046.2:p.Gly1873Asp
ENST00000429174.6:c.5588G>A	ENSP00000398305.2:p.Gly1863Asp
ENST00000479049.6:n.2410G>A
NM_001130455.1:c.5528G>A	NP_001123927.1:p.Gly1843Asp
NM_001130976.1:c.5483G>A	NP_001124448.1:p.Gly1828Asp
NM_001130977.1:c.5546G>A	NP_001124449.1:p.Gly1849Asp
NM_001130978.1:c.5588G>A	NP_001124450.1:p.Gly1863Asp
NM_001130979.1:c.5618G>A	NP_001124451.1:p.Gly1873Asp
NM_001130980.1:c.5576G>A	NP_001124452.1:p.Gly1859Asp
NM_001130981.1:c.5639G>A	NP_001124453.1:p.Gly1880Asp
NM_001130982.1:c.5621G>A	NP_001124454.1:p.Gly1874Asp
NM_001130983.1:c.5591G>A	NP_001124455.1:p.Gly1864Asp
NM_001130984.1:c.5549G>A	NP_001124456.1:p.Gly1850Asp
NM_001130985.1:c.5579G>A	NP_001124457.1:p.Gly1860Asp
NM_001130986.1:c.5486G>A	NP_001124458.1:p.Gly1829Asp
NM_001130987.1:c.5642G>A	NP_001124459.1:p.Gly1881Asp
NM_003494.3:c.5525G>A	NP_003485.1:p.Gly1842Asp
XM_005264584.3:c.5684G>A	XP_005264641.1:p.Gly1895Asp
XM_005264585.3:c.5681G>A	XP_005264642.1:p.Gly1894Asp
XM_005264584.4:c.5684G>A	XP_005264641.1:p.Gly1895Asp
XM_005264585.5:c.5681G>A	XP_005264642.1:p.Gly1894Asp
NM_001130987.2:c.5642G>A MANE Select	NP_001124459.1:p.Gly1881Asp
NM_001130455.2:c.5528G>A	NP_001123927.1:p.Gly1843Asp
NM_001130976.2:c.5483G>A	NP_001124448.1:p.Gly1828Asp
NM_001130977.2:c.5546G>A	NP_001124449.1:p.Gly1849Asp
NM_001130978.2:c.5588G>A	NP_001124450.1:p.Gly1863Asp
NM_001130979.2:c.5618G>A	NP_001124451.1:p.Gly1873Asp
NM_001130980.2:c.5576G>A	NP_001124452.1:p.Gly1859Asp
NM_001130981.2:c.5639G>A	NP_001124453.1:p.Gly1880Asp
NM_001130982.2:c.5621G>A	NP_001124454.1:p.Gly1874Asp
NM_001130983.2:c.5591G>A	NP_001124455.1:p.Gly1864Asp
NM_001130984.2:c.5549G>A	NP_001124456.1:p.Gly1850Asp
NM_001130985.2:c.5579G>A	NP_001124457.1:p.Gly1860Asp
NM_001130986.2:c.5486G>A	NP_001124458.1:p.Gly1829Asp
NM_003494.4:c.5525G>A MANE Plus Clinical	NP_003485.1:p.Gly1842Asp