Canonical Allele Identifier: CA347222869

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896285C>G (hg19) ; chr2:g.71669155C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669155C>G , CM000664.2:g.71669155C>G	GRCh38
NC_000002.11:g.71896285C>G , CM000664.1:g.71896285C>G	GRCh37
NC_000002.10:g.71749793C>G	NCBI36
NG_008694.1:g.220533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3004C>G	ENSP00000513536.1:p.Leu1002Val
ENST00000698058.1:c.2221C>G	ENSP00000513537.1:p.Leu741Val
ENST00000698059.1:c.2329C>G	ENSP00000513538.1:p.Leu777Val
ENST00000258104.8:c.5473C>G MANE Plus Clinical	ENSP00000258104.3:p.Leu1825Val
ENST00000410020.8:c.5590C>G MANE Select	ENSP00000386881.3:p.Leu1864Val
ENST00000258104.7:c.5473C>G	ENSP00000258104.3:p.Leu1825Val
ENST00000394120.6:c.5476C>G	ENSP00000377678.2:p.Leu1826Val
ENST00000409366.5:c.5539C>G	ENSP00000386512.1:p.Leu1847Val
ENST00000409582.7:c.5587C>G	ENSP00000386547.3:p.Leu1863Val
ENST00000409651.5:c.5569C>G	ENSP00000386683.1:p.Leu1857Val
ENST00000409744.5:c.5497C>G	ENSP00000386285.1:p.Leu1833Val
ENST00000409762.5:c.5524C>G	ENSP00000387137.1:p.Leu1842Val
ENST00000410020.7:c.5590C>G	ENSP00000386881.3:p.Leu1864Val
ENST00000410041.1:c.5527C>G	ENSP00000386617.1:p.Leu1843Val
ENST00000413539.6:c.5566C>G	ENSP00000407046.2:p.Leu1856Val
ENST00000429174.6:c.5536C>G	ENSP00000398305.2:p.Leu1846Val
ENST00000479049.6:n.2358C>G
NM_001130455.1:c.5476C>G	NP_001123927.1:p.Leu1826Val
NM_001130976.1:c.5431C>G	NP_001124448.1:p.Leu1811Val
NM_001130977.1:c.5494C>G	NP_001124449.1:p.Leu1832Val
NM_001130978.1:c.5536C>G	NP_001124450.1:p.Leu1846Val
NM_001130979.1:c.5566C>G	NP_001124451.1:p.Leu1856Val
NM_001130980.1:c.5524C>G	NP_001124452.1:p.Leu1842Val
NM_001130981.1:c.5587C>G	NP_001124453.1:p.Leu1863Val
NM_001130982.1:c.5569C>G	NP_001124454.1:p.Leu1857Val
NM_001130983.1:c.5539C>G	NP_001124455.1:p.Leu1847Val
NM_001130984.1:c.5497C>G	NP_001124456.1:p.Leu1833Val
NM_001130985.1:c.5527C>G	NP_001124457.1:p.Leu1843Val
NM_001130986.1:c.5434C>G	NP_001124458.1:p.Leu1812Val
NM_001130987.1:c.5590C>G	NP_001124459.1:p.Leu1864Val
NM_003494.3:c.5473C>G	NP_003485.1:p.Leu1825Val
XM_005264584.3:c.5632C>G	XP_005264641.1:p.Leu1878Val
XM_005264585.3:c.5629C>G	XP_005264642.1:p.Leu1877Val
XM_005264584.4:c.5632C>G	XP_005264641.1:p.Leu1878Val
XM_005264585.5:c.5629C>G	XP_005264642.1:p.Leu1877Val
NM_001130987.2:c.5590C>G MANE Select	NP_001124459.1:p.Leu1864Val
NM_001130455.2:c.5476C>G	NP_001123927.1:p.Leu1826Val
NM_001130976.2:c.5431C>G	NP_001124448.1:p.Leu1811Val
NM_001130977.2:c.5494C>G	NP_001124449.1:p.Leu1832Val
NM_001130978.2:c.5536C>G	NP_001124450.1:p.Leu1846Val
NM_001130979.2:c.5566C>G	NP_001124451.1:p.Leu1856Val
NM_001130980.2:c.5524C>G	NP_001124452.1:p.Leu1842Val
NM_001130981.2:c.5587C>G	NP_001124453.1:p.Leu1863Val
NM_001130982.2:c.5569C>G	NP_001124454.1:p.Leu1857Val
NM_001130983.2:c.5539C>G	NP_001124455.1:p.Leu1847Val
NM_001130984.2:c.5497C>G	NP_001124456.1:p.Leu1833Val
NM_001130985.2:c.5527C>G	NP_001124457.1:p.Leu1843Val
NM_001130986.2:c.5434C>G	NP_001124458.1:p.Leu1812Val
NM_003494.4:c.5473C>G MANE Plus Clinical	NP_003485.1:p.Leu1825Val