Canonical Allele Identifier: CA390513854

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745109G>C (hg19) ; chr14:g.77278766G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278766G>C , CM000676.2:g.77278766G>C	GRCh38
NC_000014.8:g.77745109G>C , CM000676.1:g.77745109G>C	GRCh37
NC_000014.7:g.76814862G>C	NCBI36
NG_008897.1:g.47117C>G , LRG_844:g.47117C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.920C>G
ENST00000556394.2:c.1536C>G	ENSP00000451967.2:p.His512Gln
ENST00000682128.1:c.296C>G	ENSP00000506976.1:n.296C>G
ENST00000682247.1:c.1984C>G	ENSP00000507213.1:p.Leu662Val
ENST00000682395.1:n.2459C>G
ENST00000682459.1:n.1698C>G
ENST00000682467.1:c.1892-258C>G	ENSP00000508062.1:n.1892-258C>G
ENST00000682615.1:n.349C>G
ENST00000682795.1:c.2142C>G	ENSP00000507574.1:p.His714Gln
ENST00000682895.1:n.1711C>G
ENST00000682955.1:n.1569C>G
ENST00000683095.1:c.401C>G	ENSP00000508040.1:n.401C>G
ENST00000683188.1:c.2256C>G
ENST00000683380.1:n.1659C>G
ENST00000683907.1:c.260C>G	ENSP00000507754.1:n.260C>G
ENST00000684172.1:c.371C>G	ENSP00000508391.1:n.371C>G
ENST00000684259.1:n.3762C>G
ENST00000684538.1:n.1374C>G
ENST00000684549.1:n.1546C>G
ENST00000261534.9:c.1995C>G MANE Select	ENSP00000261534.4:p.His665Gln
ENST00000261534.8:c.1995C>G	ENSP00000261534.4:p.His665Gln
ENST00000452340.7:n.2971C>G
ENST00000554767.5:n.2781C>G
ENST00000555710.1:c.356C>G	ENSP00000451730.1:n.356C>G
ENST00000556394.1:c.88-258C>G
ENST00000556446.1:n.296C>G
ENST00000602717.5:c.210C>G	ENSP00000487704.1:p.His70Gln
NM_013382.5:c.1995C>G , LRG_844t1:c.1995C>G	NP_037514.2:p.His665Gln
XM_011536675.1:c.2184C>G	XP_011534977.1:p.His728Gln
XM_011536676.1:c.1851C>G	XP_011534978.1:p.His617Gln
XM_011536677.1:c.1725C>G	XP_011534979.1:p.His575Gln
XM_011536679.1:c.1278C>G	XP_011534981.1:p.His426Gln
XR_943416.1:n.2248C>G
XM_011536675.2:c.2184C>G	XP_011534977.1:p.His728Gln
XM_011536676.2:c.1851C>G	XP_011534978.1:p.His617Gln
XM_011536677.3:c.1725C>G	XP_011534979.1:p.His575Gln
XR_001750279.1:n.2281C>G
XR_001750282.1:n.2934C>G
XR_943416.3:n.2246C>G
NM_013382.6:c.1995C>G	NP_037514.2:p.His665Gln
NM_013382.7:c.1995C>G MANE Select	NP_037514.2:p.His665Gln