Canonical Allele Identifier: CA390514254

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745204G>T (hg19) ; chr14:g.77278861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278861G>T , CM000676.2:g.77278861G>T	GRCh38
NC_000014.8:g.77745204G>T , CM000676.1:g.77745204G>T	GRCh37
NC_000014.7:g.76814957G>T	NCBI36
NG_008897.1:g.47022C>A , LRG_844:g.47022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.825C>A
ENST00000556394.2:c.1441C>A	ENSP00000451967.2:p.Gln481Lys
ENST00000682128.1:c.201C>A	ENSP00000506976.1:n.201C>A
ENST00000682247.1:c.1892-3C>A	ENSP00000507213.1:n.1892-3C>A
ENST00000682395.1:n.2364C>A
ENST00000682459.1:n.1603C>A
ENST00000682467.1:c.1892-353C>A	ENSP00000508062.1:n.1892-353C>A
ENST00000682615.1:n.254C>A
ENST00000682795.1:c.2047C>A	ENSP00000507574.1:p.Gln683Lys
ENST00000682895.1:n.1616C>A
ENST00000682955.1:n.1474C>A
ENST00000683095.1:c.306C>A	ENSP00000508040.1:n.306C>A
ENST00000683188.1:c.2161C>A
ENST00000683380.1:n.1564C>A
ENST00000683828.1:c.1609C>A
ENST00000683907.1:c.165C>A	ENSP00000507754.1:p.Pro55=
ENST00000684172.1:c.276C>A	ENSP00000508391.1:n.276C>A
ENST00000684259.1:n.3667C>A
ENST00000684538.1:n.1279C>A
ENST00000684549.1:n.1451C>A
ENST00000261534.9:c.1900C>A MANE Select	ENSP00000261534.4:p.Gln634Lys
ENST00000261534.8:c.1900C>A	ENSP00000261534.4:p.Gln634Lys
ENST00000452340.7:n.2876C>A
ENST00000554767.5:n.2686C>A
ENST00000555134.1:n.825C>A
ENST00000555710.1:c.261C>A	ENSP00000451730.1:n.261C>A
ENST00000556171.1:c.492C>A
ENST00000556394.1:c.88-353C>A
ENST00000556446.1:n.201C>A
ENST00000602717.5:c.115C>A	ENSP00000487704.1:p.Gln39Lys
NM_013382.5:c.1900C>A , LRG_844t1:c.1900C>A	NP_037514.2:p.Gln634Lys
XM_011536675.1:c.2089C>A	XP_011534977.1:p.Gln697Lys
XM_011536676.1:c.1756C>A	XP_011534978.1:p.Gln586Lys
XM_011536677.1:c.1630C>A	XP_011534979.1:p.Gln544Lys
XM_011536679.1:c.1183C>A	XP_011534981.1:p.Gln395Lys
XR_943416.1:n.2153C>A
XM_011536675.2:c.2089C>A	XP_011534977.1:p.Gln697Lys
XM_011536676.2:c.1756C>A	XP_011534978.1:p.Gln586Lys
XM_011536677.3:c.1630C>A	XP_011534979.1:p.Gln544Lys
XR_001750279.1:n.2186C>A
XR_001750282.1:n.2839C>A
XR_943416.3:n.2151C>A
NM_013382.6:c.1900C>A	NP_037514.2:p.Gln634Lys
NM_013382.7:c.1900C>A MANE Select	NP_037514.2:p.Gln634Lys