Canonical Allele Identifier: CA390517718

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753128G>T (hg19) ; chr14:g.77286785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286785G>T , CM000676.2:g.77286785G>T	GRCh38
NC_000014.8:g.77753128G>T , CM000676.1:g.77753128G>T	GRCh37
NC_000014.7:g.76822881G>T	NCBI36
NG_008897.1:g.39098C>A , LRG_844:g.39098C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.832C>A	ENSP00000451967.2:p.Pro278Thr
ENST00000682247.1:c.1291C>A	ENSP00000507213.1:p.Pro431Thr
ENST00000682382.1:c.863C>A
ENST00000682395.1:n.1469C>A
ENST00000682459.1:n.994C>A
ENST00000682467.1:c.1291C>A	ENSP00000508062.1:p.Pro431Thr
ENST00000682706.1:n.68C>A
ENST00000682795.1:c.1291C>A	ENSP00000507574.1:p.Pro431Thr
ENST00000682895.1:n.1007C>A
ENST00000682955.1:n.579C>A
ENST00000683188.1:c.1266C>A
ENST00000683328.1:c.284C>A	ENSP00000508096.1:n.284C>A
ENST00000683380.1:n.955C>A
ENST00000683828.1:c.1000C>A
ENST00000684259.1:n.1142C>A
ENST00000684444.1:c.38C>A
ENST00000684549.1:n.842C>A
ENST00000261534.9:c.1291C>A MANE Select	ENSP00000261534.4:p.Pro431Thr
ENST00000261534.8:c.1291C>A	ENSP00000261534.4:p.Pro431Thr
ENST00000452340.7:n.1314C>A
ENST00000553880.5:n.162C>A
ENST00000554767.5:n.2077C>A
ENST00000554884.5:n.283C>A
ENST00000556404.1:n.425C>A
ENST00000556851.1:n.327C>A
ENST00000557675.5:n.381C>A
NM_013382.5:c.1291C>A , LRG_844t1:c.1291C>A	NP_037514.2:p.Pro431Thr
XM_011536675.1:c.1291C>A	XP_011534977.1:p.Pro431Thr
XM_011536676.1:c.958C>A	XP_011534978.1:p.Pro320Thr
XM_011536677.1:c.832C>A	XP_011534979.1:p.Pro278Thr
XM_011536678.1:c.1291C>A	XP_011534980.1:p.Pro431Thr
XM_011536679.1:c.385C>A	XP_011534981.1:p.Pro129Thr
XR_943416.1:n.1494C>A
XM_011536675.2:c.1291C>A	XP_011534977.1:p.Pro431Thr
XM_011536676.2:c.958C>A	XP_011534978.1:p.Pro320Thr
XM_011536677.3:c.832C>A	XP_011534979.1:p.Pro278Thr
XR_001750279.1:n.1491C>A
XR_001750282.1:n.1944C>A
XR_943416.3:n.1492C>A
NM_013382.6:c.1291C>A	NP_037514.2:p.Pro431Thr
NM_013382.7:c.1291C>A MANE Select	NP_037514.2:p.Pro431Thr