Canonical Allele Identifier: CA347223158

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896334A>T (hg19) ; chr2:g.71669204A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669204A>T , CM000664.2:g.71669204A>T	GRCh38
NC_000002.11:g.71896334A>T , CM000664.1:g.71896334A>T	GRCh37
NC_000002.10:g.71749842A>T	NCBI36
NG_008694.1:g.220582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3053A>T	ENSP00000513536.1:p.Lys1018Ile
ENST00000698058.1:c.2270A>T	ENSP00000513537.1:p.Lys757Ile
ENST00000698059.1:c.2378A>T	ENSP00000513538.1:p.Lys793Ile
ENST00000258104.8:c.5522A>T MANE Plus Clinical	ENSP00000258104.3:p.Lys1841Ile
ENST00000410020.8:c.5639A>T MANE Select	ENSP00000386881.3:p.Lys1880Ile
ENST00000258104.7:c.5522A>T	ENSP00000258104.3:p.Lys1841Ile
ENST00000394120.6:c.5525A>T	ENSP00000377678.2:p.Lys1842Ile
ENST00000409366.5:c.5588A>T	ENSP00000386512.1:p.Lys1863Ile
ENST00000409582.7:c.5636A>T	ENSP00000386547.3:p.Lys1879Ile
ENST00000409651.5:c.5618A>T	ENSP00000386683.1:p.Lys1873Ile
ENST00000409744.5:c.5546A>T	ENSP00000386285.1:p.Lys1849Ile
ENST00000409762.5:c.5573A>T	ENSP00000387137.1:p.Lys1858Ile
ENST00000410020.7:c.5639A>T	ENSP00000386881.3:p.Lys1880Ile
ENST00000410041.1:c.5576A>T	ENSP00000386617.1:p.Lys1859Ile
ENST00000413539.6:c.5615A>T	ENSP00000407046.2:p.Lys1872Ile
ENST00000429174.6:c.5585A>T	ENSP00000398305.2:p.Lys1862Ile
ENST00000479049.6:n.2407A>T
NM_001130455.1:c.5525A>T	NP_001123927.1:p.Lys1842Ile
NM_001130976.1:c.5480A>T	NP_001124448.1:p.Lys1827Ile
NM_001130977.1:c.5543A>T	NP_001124449.1:p.Lys1848Ile
NM_001130978.1:c.5585A>T	NP_001124450.1:p.Lys1862Ile
NM_001130979.1:c.5615A>T	NP_001124451.1:p.Lys1872Ile
NM_001130980.1:c.5573A>T	NP_001124452.1:p.Lys1858Ile
NM_001130981.1:c.5636A>T	NP_001124453.1:p.Lys1879Ile
NM_001130982.1:c.5618A>T	NP_001124454.1:p.Lys1873Ile
NM_001130983.1:c.5588A>T	NP_001124455.1:p.Lys1863Ile
NM_001130984.1:c.5546A>T	NP_001124456.1:p.Lys1849Ile
NM_001130985.1:c.5576A>T	NP_001124457.1:p.Lys1859Ile
NM_001130986.1:c.5483A>T	NP_001124458.1:p.Lys1828Ile
NM_001130987.1:c.5639A>T	NP_001124459.1:p.Lys1880Ile
NM_003494.3:c.5522A>T	NP_003485.1:p.Lys1841Ile
XM_005264584.3:c.5681A>T	XP_005264641.1:p.Lys1894Ile
XM_005264585.3:c.5678A>T	XP_005264642.1:p.Lys1893Ile
XM_005264584.4:c.5681A>T	XP_005264641.1:p.Lys1894Ile
XM_005264585.5:c.5678A>T	XP_005264642.1:p.Lys1893Ile
NM_001130987.2:c.5639A>T MANE Select	NP_001124459.1:p.Lys1880Ile
NM_001130455.2:c.5525A>T	NP_001123927.1:p.Lys1842Ile
NM_001130976.2:c.5480A>T	NP_001124448.1:p.Lys1827Ile
NM_001130977.2:c.5543A>T	NP_001124449.1:p.Lys1848Ile
NM_001130978.2:c.5585A>T	NP_001124450.1:p.Lys1862Ile
NM_001130979.2:c.5615A>T	NP_001124451.1:p.Lys1872Ile
NM_001130980.2:c.5573A>T	NP_001124452.1:p.Lys1858Ile
NM_001130981.2:c.5636A>T	NP_001124453.1:p.Lys1879Ile
NM_001130982.2:c.5618A>T	NP_001124454.1:p.Lys1873Ile
NM_001130983.2:c.5588A>T	NP_001124455.1:p.Lys1863Ile
NM_001130984.2:c.5546A>T	NP_001124456.1:p.Lys1849Ile
NM_001130985.2:c.5576A>T	NP_001124457.1:p.Lys1859Ile
NM_001130986.2:c.5483A>T	NP_001124458.1:p.Lys1828Ile
NM_003494.4:c.5522A>T MANE Plus Clinical	NP_003485.1:p.Lys1841Ile