Canonical Allele Identifier: CA487324468

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753129G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286786G>C , CM000676.2:g.77286786G>C	GRCh38
NC_000014.8:g.77753129G>C , CM000676.1:g.77753129G>C	GRCh37
NC_000014.7:g.76822882G>C	NCBI36
NG_008897.1:g.39097C>G , LRG_844:g.39097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.831C>G	ENSP00000451967.2:p.Ala277=
ENST00000682247.1:c.1290C>G	ENSP00000507213.1:p.Ala430=
ENST00000682382.1:c.862C>G
ENST00000682395.1:n.1468C>G
ENST00000682459.1:n.993C>G
ENST00000682467.1:c.1290C>G	ENSP00000508062.1:p.Ala430=
ENST00000682706.1:n.67C>G
ENST00000682795.1:c.1290C>G	ENSP00000507574.1:p.Ala430=
ENST00000682895.1:n.1006C>G
ENST00000682955.1:n.578C>G
ENST00000683188.1:c.1265C>G
ENST00000683328.1:c.283C>G	ENSP00000508096.1:n.283C>G
ENST00000683380.1:n.954C>G
ENST00000683828.1:c.999C>G
ENST00000684259.1:n.1141C>G
ENST00000684444.1:c.37C>G
ENST00000684549.1:n.841C>G
ENST00000261534.9:c.1290C>G MANE Select	ENSP00000261534.4:p.Ala430=
ENST00000261534.8:c.1290C>G	ENSP00000261534.4:p.Ala430=
ENST00000452340.7:n.1313C>G
ENST00000553880.5:n.161C>G
ENST00000554767.5:n.2076C>G
ENST00000554884.5:n.282C>G
ENST00000556404.1:n.424C>G
ENST00000556851.1:n.326C>G
ENST00000557675.5:n.380C>G
NM_013382.5:c.1290C>G , LRG_844t1:c.1290C>G	NP_037514.2:p.Ala430=
XM_011536675.1:c.1290C>G	XP_011534977.1:p.Ala430=
XM_011536676.1:c.957C>G	XP_011534978.1:p.Ala319=
XM_011536677.1:c.831C>G	XP_011534979.1:p.Ala277=
XM_011536678.1:c.1290C>G	XP_011534980.1:p.Ala430=
XM_011536679.1:c.384C>G	XP_011534981.1:p.Ala128=
XR_943416.1:n.1493C>G
XM_011536675.2:c.1290C>G	XP_011534977.1:p.Ala430=
XM_011536676.2:c.957C>G	XP_011534978.1:p.Ala319=
XM_011536677.3:c.831C>G	XP_011534979.1:p.Ala277=
XR_001750279.1:n.1490C>G
XR_001750282.1:n.1943C>G
XR_943416.3:n.1491C>G
NM_013382.6:c.1290C>G	NP_037514.2:p.Ala430=
NM_013382.7:c.1290C>G MANE Select	NP_037514.2:p.Ala430=