Canonical Allele Identifier: CA390517672

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753107G>T (hg19) ; chr14:g.77286764G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286764G>T , CM000676.2:g.77286764G>T	GRCh38
NC_000014.8:g.77753107G>T , CM000676.1:g.77753107G>T	GRCh37
NC_000014.7:g.76822860G>T	NCBI36
NG_008897.1:g.39119C>A , LRG_844:g.39119C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.853C>A	ENSP00000451967.2:p.Gln285Lys
ENST00000682247.1:c.1312C>A	ENSP00000507213.1:p.Gln438Lys
ENST00000682382.1:c.884C>A
ENST00000682395.1:n.1490C>A
ENST00000682459.1:n.1015C>A
ENST00000682467.1:c.1312C>A	ENSP00000508062.1:p.Gln438Lys
ENST00000682706.1:n.89C>A
ENST00000682795.1:c.1312C>A	ENSP00000507574.1:p.Gln438Lys
ENST00000682895.1:n.1028C>A
ENST00000682955.1:n.600C>A
ENST00000683188.1:c.1287C>A
ENST00000683328.1:c.305C>A	ENSP00000508096.1:n.305C>A
ENST00000683380.1:n.976C>A
ENST00000683828.1:c.1021C>A
ENST00000684259.1:n.1163C>A
ENST00000684444.1:c.59C>A
ENST00000684549.1:n.863C>A
ENST00000261534.9:c.1312C>A MANE Select	ENSP00000261534.4:p.Gln438Lys
ENST00000261534.8:c.1312C>A	ENSP00000261534.4:p.Gln438Lys
ENST00000452340.7:n.1335C>A
ENST00000553880.5:n.183C>A
ENST00000554767.5:n.2098C>A
ENST00000554884.5:n.304C>A
ENST00000556404.1:n.446C>A
ENST00000556851.1:n.348C>A
ENST00000557675.5:n.402C>A
NM_013382.5:c.1312C>A , LRG_844t1:c.1312C>A	NP_037514.2:p.Gln438Lys
XM_011536675.1:c.1312C>A	XP_011534977.1:p.Gln438Lys
XM_011536676.1:c.979C>A	XP_011534978.1:p.Gln327Lys
XM_011536677.1:c.853C>A	XP_011534979.1:p.Gln285Lys
XM_011536678.1:c.1312C>A	XP_011534980.1:p.Gln438Lys
XM_011536679.1:c.406C>A	XP_011534981.1:p.Gln136Lys
XR_943416.1:n.1515C>A
XM_011536675.2:c.1312C>A	XP_011534977.1:p.Gln438Lys
XM_011536676.2:c.979C>A	XP_011534978.1:p.Gln327Lys
XM_011536677.3:c.853C>A	XP_011534979.1:p.Gln285Lys
XR_001750279.1:n.1512C>A
XR_001750282.1:n.1965C>A
XR_943416.3:n.1513C>A
NM_013382.6:c.1312C>A	NP_037514.2:p.Gln438Lys
NM_013382.7:c.1312C>A MANE Select	NP_037514.2:p.Gln438Lys