Canonical Allele Identifier: CA390514005

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745146G>T (hg19) ; chr14:g.77278803G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278803G>T , CM000676.2:g.77278803G>T	GRCh38
NC_000014.8:g.77745146G>T , CM000676.1:g.77745146G>T	GRCh37
NC_000014.7:g.76814899G>T	NCBI36
NG_008897.1:g.47080C>A , LRG_844:g.47080C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.883C>A
ENST00000556394.2:c.1499C>A	ENSP00000451967.2:p.Pro500Gln
ENST00000682128.1:c.259C>A	ENSP00000506976.1:n.259C>A
ENST00000682247.1:c.1947C>A	ENSP00000507213.1:p.Pro649=
ENST00000682395.1:n.2422C>A
ENST00000682459.1:n.1661C>A
ENST00000682467.1:c.1892-295C>A	ENSP00000508062.1:n.1892-295C>A
ENST00000682615.1:n.312C>A
ENST00000682795.1:c.2105C>A	ENSP00000507574.1:p.Pro702Gln
ENST00000682895.1:n.1674C>A
ENST00000682955.1:n.1532C>A
ENST00000683095.1:c.364C>A	ENSP00000508040.1:n.364C>A
ENST00000683188.1:c.2219C>A
ENST00000683380.1:n.1622C>A
ENST00000683828.1:c.1667C>A
ENST00000683907.1:c.223C>A	ENSP00000507754.1:p.Arg75Ser
ENST00000684172.1:c.334C>A	ENSP00000508391.1:n.334C>A
ENST00000684259.1:n.3725C>A
ENST00000684538.1:n.1337C>A
ENST00000684549.1:n.1509C>A
ENST00000261534.9:c.1958C>A MANE Select	ENSP00000261534.4:p.Pro653Gln
ENST00000261534.8:c.1958C>A	ENSP00000261534.4:p.Pro653Gln
ENST00000452340.7:n.2934C>A
ENST00000554767.5:n.2744C>A
ENST00000555710.1:c.319C>A	ENSP00000451730.1:n.319C>A
ENST00000556171.1:c.550C>A
ENST00000556394.1:c.88-295C>A
ENST00000556446.1:n.259C>A
ENST00000602717.5:c.173C>A	ENSP00000487704.1:p.Pro58Gln
NM_013382.5:c.1958C>A , LRG_844t1:c.1958C>A	NP_037514.2:p.Pro653Gln
XM_011536675.1:c.2147C>A	XP_011534977.1:p.Pro716Gln
XM_011536676.1:c.1814C>A	XP_011534978.1:p.Pro605Gln
XM_011536677.1:c.1688C>A	XP_011534979.1:p.Pro563Gln
XM_011536679.1:c.1241C>A	XP_011534981.1:p.Pro414Gln
XR_943416.1:n.2211C>A
XM_011536675.2:c.2147C>A	XP_011534977.1:p.Pro716Gln
XM_011536676.2:c.1814C>A	XP_011534978.1:p.Pro605Gln
XM_011536677.3:c.1688C>A	XP_011534979.1:p.Pro563Gln
XR_001750279.1:n.2244C>A
XR_001750282.1:n.2897C>A
XR_943416.3:n.2209C>A
NM_013382.6:c.1958C>A	NP_037514.2:p.Pro653Gln
NM_013382.7:c.1958C>A MANE Select	NP_037514.2:p.Pro653Gln