Canonical Allele Identifier: CA487324443

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753090G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286747G>A , CM000676.2:g.77286747G>A	GRCh38
NC_000014.8:g.77753090G>A , CM000676.1:g.77753090G>A	GRCh37
NC_000014.7:g.76822843G>A	NCBI36
NG_008897.1:g.39136C>T , LRG_844:g.39136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.870C>T	ENSP00000451967.2:p.Gly290=
ENST00000682247.1:c.1329C>T	ENSP00000507213.1:p.Gly443=
ENST00000682382.1:c.901C>T
ENST00000682395.1:n.1507C>T
ENST00000682459.1:n.1032C>T
ENST00000682467.1:c.1329C>T	ENSP00000508062.1:p.Gly443=
ENST00000682706.1:n.106C>T
ENST00000682795.1:c.1329C>T	ENSP00000507574.1:p.Gly443=
ENST00000682895.1:n.1045C>T
ENST00000682955.1:n.617C>T
ENST00000683188.1:c.1304C>T
ENST00000683328.1:c.322C>T	ENSP00000508096.1:n.322C>T
ENST00000683380.1:n.993C>T
ENST00000683828.1:c.1038C>T
ENST00000684259.1:n.1180C>T
ENST00000684444.1:c.76C>T
ENST00000684549.1:n.880C>T
ENST00000261534.9:c.1329C>T MANE Select	ENSP00000261534.4:p.Gly443=
ENST00000261534.8:c.1329C>T	ENSP00000261534.4:p.Gly443=
ENST00000452340.7:n.1352C>T
ENST00000553880.5:n.200C>T
ENST00000554767.5:n.2115C>T
ENST00000554884.5:n.321C>T
ENST00000556404.1:n.463C>T
ENST00000557675.5:n.419C>T
NM_013382.5:c.1329C>T , LRG_844t1:c.1329C>T	NP_037514.2:p.Gly443=
XM_011536675.1:c.1329C>T	XP_011534977.1:p.Gly443=
XM_011536676.1:c.996C>T	XP_011534978.1:p.Gly332=
XM_011536677.1:c.870C>T	XP_011534979.1:p.Gly290=
XM_011536678.1:c.1329C>T	XP_011534980.1:p.Gly443=
XM_011536679.1:c.423C>T	XP_011534981.1:p.Gly141=
XR_943416.1:n.1532C>T
XM_011536675.2:c.1329C>T	XP_011534977.1:p.Gly443=
XM_011536676.2:c.996C>T	XP_011534978.1:p.Gly332=
XM_011536677.3:c.870C>T	XP_011534979.1:p.Gly290=
XR_001750279.1:n.1529C>T
XR_001750282.1:n.1982C>T
XR_943416.3:n.1530C>T
NM_013382.6:c.1329C>T	NP_037514.2:p.Gly443=
NM_013382.7:c.1329C>T MANE Select	NP_037514.2:p.Gly443=