Canonical Allele Identifier: CA347223148

Gene: DYSF

Linked Data

• ClinVar Variation Id: 984250
• ClinVar RCV Id: RCV001264260
• dbSNP Id: rs1320752132
• MyVariant Identifiers: chr2:g.71896333A>T (hg19) ; chr2:g.71669203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669203A>T , CM000664.2:g.71669203A>T	GRCh38
NC_000002.11:g.71896333A>T , CM000664.1:g.71896333A>T	GRCh37
NC_000002.10:g.71749841A>T	NCBI36
NG_008694.1:g.220581A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3052A>T	ENSP00000513536.1:p.Lys1018Ter
ENST00000698058.1:c.2269A>T	ENSP00000513537.1:p.Lys757Ter
ENST00000698059.1:c.2377A>T	ENSP00000513538.1:p.Lys793Ter
ENST00000258104.8:c.5521A>T MANE Plus Clinical	ENSP00000258104.3:p.Lys1841Ter
ENST00000410020.8:c.5638A>T MANE Select	ENSP00000386881.3:p.Lys1880Ter
ENST00000258104.7:c.5521A>T	ENSP00000258104.3:p.Lys1841Ter
ENST00000394120.6:c.5524A>T	ENSP00000377678.2:p.Lys1842Ter
ENST00000409366.5:c.5587A>T	ENSP00000386512.1:p.Lys1863Ter
ENST00000409582.7:c.5635A>T	ENSP00000386547.3:p.Lys1879Ter
ENST00000409651.5:c.5617A>T	ENSP00000386683.1:p.Lys1873Ter
ENST00000409744.5:c.5545A>T	ENSP00000386285.1:p.Lys1849Ter
ENST00000409762.5:c.5572A>T	ENSP00000387137.1:p.Lys1858Ter
ENST00000410020.7:c.5638A>T	ENSP00000386881.3:p.Lys1880Ter
ENST00000410041.1:c.5575A>T	ENSP00000386617.1:p.Lys1859Ter
ENST00000413539.6:c.5614A>T	ENSP00000407046.2:p.Lys1872Ter
ENST00000429174.6:c.5584A>T	ENSP00000398305.2:p.Lys1862Ter
ENST00000479049.6:n.2406A>T
NM_001130455.1:c.5524A>T	NP_001123927.1:p.Lys1842Ter
NM_001130976.1:c.5479A>T	NP_001124448.1:p.Lys1827Ter
NM_001130977.1:c.5542A>T	NP_001124449.1:p.Lys1848Ter
NM_001130978.1:c.5584A>T	NP_001124450.1:p.Lys1862Ter
NM_001130979.1:c.5614A>T	NP_001124451.1:p.Lys1872Ter
NM_001130980.1:c.5572A>T	NP_001124452.1:p.Lys1858Ter
NM_001130981.1:c.5635A>T	NP_001124453.1:p.Lys1879Ter
NM_001130982.1:c.5617A>T	NP_001124454.1:p.Lys1873Ter
NM_001130983.1:c.5587A>T	NP_001124455.1:p.Lys1863Ter
NM_001130984.1:c.5545A>T	NP_001124456.1:p.Lys1849Ter
NM_001130985.1:c.5575A>T	NP_001124457.1:p.Lys1859Ter
NM_001130986.1:c.5482A>T	NP_001124458.1:p.Lys1828Ter
NM_001130987.1:c.5638A>T	NP_001124459.1:p.Lys1880Ter
NM_003494.3:c.5521A>T	NP_003485.1:p.Lys1841Ter
XM_005264584.3:c.5680A>T	XP_005264641.1:p.Lys1894Ter
XM_005264585.3:c.5677A>T	XP_005264642.1:p.Lys1893Ter
XM_005264584.4:c.5680A>T	XP_005264641.1:p.Lys1894Ter
XM_005264585.5:c.5677A>T	XP_005264642.1:p.Lys1893Ter
NM_001130987.2:c.5638A>T MANE Select	NP_001124459.1:p.Lys1880Ter
NM_001130455.2:c.5524A>T	NP_001123927.1:p.Lys1842Ter
NM_001130976.2:c.5479A>T	NP_001124448.1:p.Lys1827Ter
NM_001130977.2:c.5542A>T	NP_001124449.1:p.Lys1848Ter
NM_001130978.2:c.5584A>T	NP_001124450.1:p.Lys1862Ter
NM_001130979.2:c.5614A>T	NP_001124451.1:p.Lys1872Ter
NM_001130980.2:c.5572A>T	NP_001124452.1:p.Lys1858Ter
NM_001130981.2:c.5635A>T	NP_001124453.1:p.Lys1879Ter
NM_001130982.2:c.5617A>T	NP_001124454.1:p.Lys1873Ter
NM_001130983.2:c.5587A>T	NP_001124455.1:p.Lys1863Ter
NM_001130984.2:c.5545A>T	NP_001124456.1:p.Lys1849Ter
NM_001130985.2:c.5575A>T	NP_001124457.1:p.Lys1859Ter
NM_001130986.2:c.5482A>T	NP_001124458.1:p.Lys1828Ter
NM_003494.4:c.5521A>T MANE Plus Clinical	NP_003485.1:p.Lys1841Ter