Canonical Allele Identifier: CA347223040

Gene: DYSF

Linked Data

• ClinVar Variation Id: 500678
• ClinVar RCV Id: RCV000593308 ; RCV003231652
• dbSNP Id: rs1553415622
• MyVariant Identifiers: chr2:g.71896315A>G (hg19) ; chr2:g.71669185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669185A>G , CM000664.2:g.71669185A>G	GRCh38
NC_000002.11:g.71896315A>G , CM000664.1:g.71896315A>G	GRCh37
NC_000002.10:g.71749823A>G	NCBI36
NG_008694.1:g.220563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3034A>G	ENSP00000513536.1:p.Met1012Val
ENST00000698058.1:c.2251A>G	ENSP00000513537.1:p.Met751Val
ENST00000698059.1:c.2359A>G	ENSP00000513538.1:p.Met787Val
ENST00000258104.8:c.5503A>G MANE Plus Clinical	ENSP00000258104.3:p.Met1835Val
ENST00000410020.8:c.5620A>G MANE Select	ENSP00000386881.3:p.Met1874Val
ENST00000258104.7:c.5503A>G	ENSP00000258104.3:p.Met1835Val
ENST00000394120.6:c.5506A>G	ENSP00000377678.2:p.Met1836Val
ENST00000409366.5:c.5569A>G	ENSP00000386512.1:p.Met1857Val
ENST00000409582.7:c.5617A>G	ENSP00000386547.3:p.Met1873Val
ENST00000409651.5:c.5599A>G	ENSP00000386683.1:p.Met1867Val
ENST00000409744.5:c.5527A>G	ENSP00000386285.1:p.Met1843Val
ENST00000409762.5:c.5554A>G	ENSP00000387137.1:p.Met1852Val
ENST00000410020.7:c.5620A>G	ENSP00000386881.3:p.Met1874Val
ENST00000410041.1:c.5557A>G	ENSP00000386617.1:p.Met1853Val
ENST00000413539.6:c.5596A>G	ENSP00000407046.2:p.Met1866Val
ENST00000429174.6:c.5566A>G	ENSP00000398305.2:p.Met1856Val
ENST00000479049.6:n.2388A>G
NM_001130455.1:c.5506A>G	NP_001123927.1:p.Met1836Val
NM_001130976.1:c.5461A>G	NP_001124448.1:p.Met1821Val
NM_001130977.1:c.5524A>G	NP_001124449.1:p.Met1842Val
NM_001130978.1:c.5566A>G	NP_001124450.1:p.Met1856Val
NM_001130979.1:c.5596A>G	NP_001124451.1:p.Met1866Val
NM_001130980.1:c.5554A>G	NP_001124452.1:p.Met1852Val
NM_001130981.1:c.5617A>G	NP_001124453.1:p.Met1873Val
NM_001130982.1:c.5599A>G	NP_001124454.1:p.Met1867Val
NM_001130983.1:c.5569A>G	NP_001124455.1:p.Met1857Val
NM_001130984.1:c.5527A>G	NP_001124456.1:p.Met1843Val
NM_001130985.1:c.5557A>G	NP_001124457.1:p.Met1853Val
NM_001130986.1:c.5464A>G	NP_001124458.1:p.Met1822Val
NM_001130987.1:c.5620A>G	NP_001124459.1:p.Met1874Val
NM_003494.3:c.5503A>G	NP_003485.1:p.Met1835Val
XM_005264584.3:c.5662A>G	XP_005264641.1:p.Met1888Val
XM_005264585.3:c.5659A>G	XP_005264642.1:p.Met1887Val
XM_005264584.4:c.5662A>G	XP_005264641.1:p.Met1888Val
XM_005264585.5:c.5659A>G	XP_005264642.1:p.Met1887Val
NM_001130987.2:c.5620A>G MANE Select	NP_001124459.1:p.Met1874Val
NM_001130455.2:c.5506A>G	NP_001123927.1:p.Met1836Val
NM_001130976.2:c.5461A>G	NP_001124448.1:p.Met1821Val
NM_001130977.2:c.5524A>G	NP_001124449.1:p.Met1842Val
NM_001130978.2:c.5566A>G	NP_001124450.1:p.Met1856Val
NM_001130979.2:c.5596A>G	NP_001124451.1:p.Met1866Val
NM_001130980.2:c.5554A>G	NP_001124452.1:p.Met1852Val
NM_001130981.2:c.5617A>G	NP_001124453.1:p.Met1873Val
NM_001130982.2:c.5599A>G	NP_001124454.1:p.Met1867Val
NM_001130983.2:c.5569A>G	NP_001124455.1:p.Met1857Val
NM_001130984.2:c.5527A>G	NP_001124456.1:p.Met1843Val
NM_001130985.2:c.5557A>G	NP_001124457.1:p.Met1853Val
NM_001130986.2:c.5464A>G	NP_001124458.1:p.Met1822Val
NM_003494.4:c.5503A>G MANE Plus Clinical	NP_003485.1:p.Met1835Val