Canonical Allele Identifier: CA347223101

Gene: DYSF

Linked Data

• gnomAD v4: 2-71669194-A-G
• MyVariant Identifiers: chr2:g.71896324A>G (hg19) ; chr2:g.71669194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669194A>G , CM000664.2:g.71669194A>G	GRCh38
NC_000002.11:g.71896324A>G , CM000664.1:g.71896324A>G	GRCh37
NC_000002.10:g.71749832A>G	NCBI36
NG_008694.1:g.220572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3043A>G	ENSP00000513536.1:p.Ile1015Val
ENST00000698058.1:c.2260A>G	ENSP00000513537.1:p.Ile754Val
ENST00000698059.1:c.2368A>G	ENSP00000513538.1:p.Ile790Val
ENST00000258104.8:c.5512A>G MANE Plus Clinical	ENSP00000258104.3:p.Ile1838Val
ENST00000410020.8:c.5629A>G MANE Select	ENSP00000386881.3:p.Ile1877Val
ENST00000258104.7:c.5512A>G	ENSP00000258104.3:p.Ile1838Val
ENST00000394120.6:c.5515A>G	ENSP00000377678.2:p.Ile1839Val
ENST00000409366.5:c.5578A>G	ENSP00000386512.1:p.Ile1860Val
ENST00000409582.7:c.5626A>G	ENSP00000386547.3:p.Ile1876Val
ENST00000409651.5:c.5608A>G	ENSP00000386683.1:p.Ile1870Val
ENST00000409744.5:c.5536A>G	ENSP00000386285.1:p.Ile1846Val
ENST00000409762.5:c.5563A>G	ENSP00000387137.1:p.Ile1855Val
ENST00000410020.7:c.5629A>G	ENSP00000386881.3:p.Ile1877Val
ENST00000410041.1:c.5566A>G	ENSP00000386617.1:p.Ile1856Val
ENST00000413539.6:c.5605A>G	ENSP00000407046.2:p.Ile1869Val
ENST00000429174.6:c.5575A>G	ENSP00000398305.2:p.Ile1859Val
ENST00000479049.6:n.2397A>G
NM_001130455.1:c.5515A>G	NP_001123927.1:p.Ile1839Val
NM_001130976.1:c.5470A>G	NP_001124448.1:p.Ile1824Val
NM_001130977.1:c.5533A>G	NP_001124449.1:p.Ile1845Val
NM_001130978.1:c.5575A>G	NP_001124450.1:p.Ile1859Val
NM_001130979.1:c.5605A>G	NP_001124451.1:p.Ile1869Val
NM_001130980.1:c.5563A>G	NP_001124452.1:p.Ile1855Val
NM_001130981.1:c.5626A>G	NP_001124453.1:p.Ile1876Val
NM_001130982.1:c.5608A>G	NP_001124454.1:p.Ile1870Val
NM_001130983.1:c.5578A>G	NP_001124455.1:p.Ile1860Val
NM_001130984.1:c.5536A>G	NP_001124456.1:p.Ile1846Val
NM_001130985.1:c.5566A>G	NP_001124457.1:p.Ile1856Val
NM_001130986.1:c.5473A>G	NP_001124458.1:p.Ile1825Val
NM_001130987.1:c.5629A>G	NP_001124459.1:p.Ile1877Val
NM_003494.3:c.5512A>G	NP_003485.1:p.Ile1838Val
XM_005264584.3:c.5671A>G	XP_005264641.1:p.Ile1891Val
XM_005264585.3:c.5668A>G	XP_005264642.1:p.Ile1890Val
XM_005264584.4:c.5671A>G	XP_005264641.1:p.Ile1891Val
XM_005264585.5:c.5668A>G	XP_005264642.1:p.Ile1890Val
NM_001130987.2:c.5629A>G MANE Select	NP_001124459.1:p.Ile1877Val
NM_001130455.2:c.5515A>G	NP_001123927.1:p.Ile1839Val
NM_001130976.2:c.5470A>G	NP_001124448.1:p.Ile1824Val
NM_001130977.2:c.5533A>G	NP_001124449.1:p.Ile1845Val
NM_001130978.2:c.5575A>G	NP_001124450.1:p.Ile1859Val
NM_001130979.2:c.5605A>G	NP_001124451.1:p.Ile1869Val
NM_001130980.2:c.5563A>G	NP_001124452.1:p.Ile1855Val
NM_001130981.2:c.5626A>G	NP_001124453.1:p.Ile1876Val
NM_001130982.2:c.5608A>G	NP_001124454.1:p.Ile1870Val
NM_001130983.2:c.5578A>G	NP_001124455.1:p.Ile1860Val
NM_001130984.2:c.5536A>G	NP_001124456.1:p.Ile1846Val
NM_001130985.2:c.5566A>G	NP_001124457.1:p.Ile1856Val
NM_001130986.2:c.5473A>G	NP_001124458.1:p.Ile1825Val
NM_003494.4:c.5512A>G MANE Plus Clinical	NP_003485.1:p.Ile1838Val