Canonical Allele Identifier: CA347223517

Gene: DYSF

Linked Data

• gnomAD v4: 2-71669633-C-G
• MyVariant Identifiers: chr2:g.71896763C>G (hg19) ; chr2:g.71669633C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669633C>G , CM000664.2:g.71669633C>G	GRCh38
NC_000002.11:g.71896763C>G , CM000664.1:g.71896763C>G	GRCh37
NC_000002.10:g.71750271C>G	NCBI36
NG_008694.1:g.221011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3085C>G	ENSP00000513536.1:p.Gln1029Glu
ENST00000698058.1:c.2302C>G	ENSP00000513537.1:p.Gln768Glu
ENST00000698059.1:c.2410C>G	ENSP00000513538.1:p.Gln804Glu
ENST00000258104.8:c.5554C>G MANE Plus Clinical	ENSP00000258104.3:p.Gln1852Glu
ENST00000410020.8:c.5671C>G MANE Select	ENSP00000386881.3:p.Gln1891Glu
ENST00000258104.7:c.5554C>G	ENSP00000258104.3:p.Gln1852Glu
ENST00000394120.6:c.5557C>G	ENSP00000377678.2:p.Gln1853Glu
ENST00000409366.5:c.5620C>G	ENSP00000386512.1:p.Gln1874Glu
ENST00000409582.7:c.5668C>G	ENSP00000386547.3:p.Gln1890Glu
ENST00000409651.5:c.5650C>G	ENSP00000386683.1:p.Gln1884Glu
ENST00000409744.5:c.5578C>G	ENSP00000386285.1:p.Gln1860Glu
ENST00000409762.5:c.5605C>G	ENSP00000387137.1:p.Gln1869Glu
ENST00000410020.7:c.5671C>G	ENSP00000386881.3:p.Gln1891Glu
ENST00000410041.1:c.5608C>G	ENSP00000386617.1:p.Gln1870Glu
ENST00000413539.6:c.5647C>G	ENSP00000407046.2:p.Gln1883Glu
ENST00000429174.6:c.5617C>G	ENSP00000398305.2:p.Gln1873Glu
ENST00000479049.6:n.2439C>G
NM_001130455.1:c.5557C>G	NP_001123927.1:p.Gln1853Glu
NM_001130976.1:c.5512C>G	NP_001124448.1:p.Gln1838Glu
NM_001130977.1:c.5575C>G	NP_001124449.1:p.Gln1859Glu
NM_001130978.1:c.5617C>G	NP_001124450.1:p.Gln1873Glu
NM_001130979.1:c.5647C>G	NP_001124451.1:p.Gln1883Glu
NM_001130980.1:c.5605C>G	NP_001124452.1:p.Gln1869Glu
NM_001130981.1:c.5668C>G	NP_001124453.1:p.Gln1890Glu
NM_001130982.1:c.5650C>G	NP_001124454.1:p.Gln1884Glu
NM_001130983.1:c.5620C>G	NP_001124455.1:p.Gln1874Glu
NM_001130984.1:c.5578C>G	NP_001124456.1:p.Gln1860Glu
NM_001130985.1:c.5608C>G	NP_001124457.1:p.Gln1870Glu
NM_001130986.1:c.5515C>G	NP_001124458.1:p.Gln1839Glu
NM_001130987.1:c.5671C>G	NP_001124459.1:p.Gln1891Glu
NM_003494.3:c.5554C>G	NP_003485.1:p.Gln1852Glu
XM_005264584.3:c.5713C>G	XP_005264641.1:p.Gln1905Glu
XM_005264585.3:c.5710C>G	XP_005264642.1:p.Gln1904Glu
XM_005264584.4:c.5713C>G	XP_005264641.1:p.Gln1905Glu
XM_005264585.5:c.5710C>G	XP_005264642.1:p.Gln1904Glu
NM_001130987.2:c.5671C>G MANE Select	NP_001124459.1:p.Gln1891Glu
NM_001130455.2:c.5557C>G	NP_001123927.1:p.Gln1853Glu
NM_001130976.2:c.5512C>G	NP_001124448.1:p.Gln1838Glu
NM_001130977.2:c.5575C>G	NP_001124449.1:p.Gln1859Glu
NM_001130978.2:c.5617C>G	NP_001124450.1:p.Gln1873Glu
NM_001130979.2:c.5647C>G	NP_001124451.1:p.Gln1883Glu
NM_001130980.2:c.5605C>G	NP_001124452.1:p.Gln1869Glu
NM_001130981.2:c.5668C>G	NP_001124453.1:p.Gln1890Glu
NM_001130982.2:c.5650C>G	NP_001124454.1:p.Gln1884Glu
NM_001130983.2:c.5620C>G	NP_001124455.1:p.Gln1874Glu
NM_001130984.2:c.5578C>G	NP_001124456.1:p.Gln1860Glu
NM_001130985.2:c.5608C>G	NP_001124457.1:p.Gln1870Glu
NM_001130986.2:c.5515C>G	NP_001124458.1:p.Gln1839Glu
NM_003494.4:c.5554C>G MANE Plus Clinical	NP_003485.1:p.Gln1852Glu