Canonical Allele Identifier: CA390517714

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753127G>C (hg19) ; chr14:g.77286784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286784G>C , CM000676.2:g.77286784G>C	GRCh38
NC_000014.8:g.77753127G>C , CM000676.1:g.77753127G>C	GRCh37
NC_000014.7:g.76822880G>C	NCBI36
NG_008897.1:g.39099C>G , LRG_844:g.39099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.833C>G	ENSP00000451967.2:p.Pro278Arg
ENST00000682247.1:c.1292C>G	ENSP00000507213.1:p.Pro431Arg
ENST00000682382.1:c.864C>G
ENST00000682395.1:n.1470C>G
ENST00000682459.1:n.995C>G
ENST00000682467.1:c.1292C>G	ENSP00000508062.1:p.Pro431Arg
ENST00000682706.1:n.69C>G
ENST00000682795.1:c.1292C>G	ENSP00000507574.1:p.Pro431Arg
ENST00000682895.1:n.1008C>G
ENST00000682955.1:n.580C>G
ENST00000683188.1:c.1267C>G
ENST00000683328.1:c.285C>G	ENSP00000508096.1:n.285C>G
ENST00000683380.1:n.956C>G
ENST00000683828.1:c.1001C>G
ENST00000684259.1:n.1143C>G
ENST00000684444.1:c.39C>G
ENST00000684549.1:n.843C>G
ENST00000261534.9:c.1292C>G MANE Select	ENSP00000261534.4:p.Pro431Arg
ENST00000261534.8:c.1292C>G	ENSP00000261534.4:p.Pro431Arg
ENST00000452340.7:n.1315C>G
ENST00000553880.5:n.163C>G
ENST00000554767.5:n.2078C>G
ENST00000554884.5:n.284C>G
ENST00000556404.1:n.426C>G
ENST00000556851.1:n.328C>G
ENST00000557675.5:n.382C>G
NM_013382.5:c.1292C>G , LRG_844t1:c.1292C>G	NP_037514.2:p.Pro431Arg
XM_011536675.1:c.1292C>G	XP_011534977.1:p.Pro431Arg
XM_011536676.1:c.959C>G	XP_011534978.1:p.Pro320Arg
XM_011536677.1:c.833C>G	XP_011534979.1:p.Pro278Arg
XM_011536678.1:c.1292C>G	XP_011534980.1:p.Pro431Arg
XM_011536679.1:c.386C>G	XP_011534981.1:p.Pro129Arg
XR_943416.1:n.1495C>G
XM_011536675.2:c.1292C>G	XP_011534977.1:p.Pro431Arg
XM_011536676.2:c.959C>G	XP_011534978.1:p.Pro320Arg
XM_011536677.3:c.833C>G	XP_011534979.1:p.Pro278Arg
XR_001750279.1:n.1492C>G
XR_001750282.1:n.1945C>G
XR_943416.3:n.1493C>G
NM_013382.6:c.1292C>G	NP_037514.2:p.Pro431Arg
NM_013382.7:c.1292C>G MANE Select	NP_037514.2:p.Pro431Arg