Canonical Allele Identifier: CA390517724

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753131C>T (hg19) ; chr14:g.77286788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286788C>T , CM000676.2:g.77286788C>T	GRCh38
NC_000014.8:g.77753131C>T , CM000676.1:g.77753131C>T	GRCh37
NC_000014.7:g.76822884C>T	NCBI36
NG_008897.1:g.39095G>A , LRG_844:g.39095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.829G>A	ENSP00000451967.2:p.Ala277Thr
ENST00000682247.1:c.1288G>A	ENSP00000507213.1:p.Ala430Thr
ENST00000682382.1:c.860G>A
ENST00000682395.1:n.1466G>A
ENST00000682459.1:n.991G>A
ENST00000682467.1:c.1288G>A	ENSP00000508062.1:p.Ala430Thr
ENST00000682706.1:n.65G>A
ENST00000682795.1:c.1288G>A	ENSP00000507574.1:p.Ala430Thr
ENST00000682895.1:n.1004G>A
ENST00000682955.1:n.576G>A
ENST00000683188.1:c.1263G>A
ENST00000683328.1:c.281G>A	ENSP00000508096.1:n.281G>A
ENST00000683380.1:n.952G>A
ENST00000683828.1:c.997G>A
ENST00000684259.1:n.1139G>A
ENST00000684444.1:c.35G>A
ENST00000684549.1:n.839G>A
ENST00000261534.9:c.1288G>A MANE Select	ENSP00000261534.4:p.Ala430Thr
ENST00000261534.8:c.1288G>A	ENSP00000261534.4:p.Ala430Thr
ENST00000452340.7:n.1311G>A
ENST00000553880.5:n.159G>A
ENST00000554767.5:n.2074G>A
ENST00000554884.5:n.280G>A
ENST00000556404.1:n.422G>A
ENST00000556851.1:n.324G>A
ENST00000557675.5:n.378G>A
NM_013382.5:c.1288G>A , LRG_844t1:c.1288G>A	NP_037514.2:p.Ala430Thr
XM_011536675.1:c.1288G>A	XP_011534977.1:p.Ala430Thr
XM_011536676.1:c.955G>A	XP_011534978.1:p.Ala319Thr
XM_011536677.1:c.829G>A	XP_011534979.1:p.Ala277Thr
XM_011536678.1:c.1288G>A	XP_011534980.1:p.Ala430Thr
XM_011536679.1:c.382G>A	XP_011534981.1:p.Ala128Thr
XR_943416.1:n.1491G>A
XM_011536675.2:c.1288G>A	XP_011534977.1:p.Ala430Thr
XM_011536676.2:c.955G>A	XP_011534978.1:p.Ala319Thr
XM_011536677.3:c.829G>A	XP_011534979.1:p.Ala277Thr
XR_001750279.1:n.1488G>A
XR_001750282.1:n.1941G>A
XR_943416.3:n.1489G>A
NM_013382.6:c.1288G>A	NP_037514.2:p.Ala430Thr
NM_013382.7:c.1288G>A MANE Select	NP_037514.2:p.Ala430Thr