Canonical Allele Identifier: CA390513522

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278460-G-T
• COSMIC: COSM4148270
• MyVariant Identifiers: chr14:g.77744803G>T (hg19) ; chr14:g.77278460G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278460G>T , CM000676.2:g.77278460G>T	GRCh38
NC_000014.8:g.77744803G>T , CM000676.1:g.77744803G>T	GRCh37
NC_000014.7:g.76814556G>T	NCBI36
NG_008897.1:g.47423C>A , LRG_844:g.47423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1006C>A
ENST00000556394.2:c.1622C>A	ENSP00000451967.2:p.Ser541Ter
ENST00000682247.1:c.2070C>A	ENSP00000507213.1:p.Leu690=
ENST00000682395.1:n.2545C>A
ENST00000682459.1:n.1784C>A
ENST00000682467.1:c.1940C>A	ENSP00000508062.1:p.Ser647Ter
ENST00000682795.1:c.2228C>A	ENSP00000507574.1:p.Ser743Ter
ENST00000682895.1:n.1797C>A
ENST00000682955.1:n.1655C>A
ENST00000683188.1:c.2342C>A
ENST00000683380.1:n.1745C>A
ENST00000683907.1:c.346C>A	ENSP00000507754.1:n.346C>A
ENST00000684259.1:n.3848C>A
ENST00000684538.1:n.1460C>A
ENST00000684549.1:n.1632C>A
ENST00000261534.9:c.2081C>A MANE Select	ENSP00000261534.4:p.Ser694Ter
ENST00000261534.8:c.2081C>A	ENSP00000261534.4:p.Ser694Ter
ENST00000452340.7:n.3057C>A
ENST00000554767.5:n.2867C>A
ENST00000555710.1:c.442C>A	ENSP00000451730.1:n.442C>A
ENST00000556394.1:c.136C>A
ENST00000556446.1:n.382C>A
ENST00000602717.5:c.296C>A	ENSP00000487704.1:p.Ser99Ter
NM_013382.5:c.2081C>A , LRG_844t1:c.2081C>A	NP_037514.2:p.Ser694Ter
XM_011536675.1:c.2270C>A	XP_011534977.1:p.Ser757Ter
XM_011536676.1:c.1937C>A	XP_011534978.1:p.Ser646Ter
XM_011536677.1:c.1811C>A	XP_011534979.1:p.Ser604Ter
XM_011536679.1:c.1364C>A	XP_011534981.1:p.Ser455Ter
XR_943416.1:n.2334C>A
XM_011536675.2:c.2270C>A	XP_011534977.1:p.Ser757Ter
XM_011536676.2:c.1937C>A	XP_011534978.1:p.Ser646Ter
XM_011536677.3:c.1811C>A	XP_011534979.1:p.Ser604Ter
XR_001750279.1:n.2367C>A
XR_001750282.1:n.3020C>A
XR_943416.3:n.2332C>A
NM_013382.6:c.2081C>A	NP_037514.2:p.Ser694Ter
NM_013382.7:c.2081C>A MANE Select	NP_037514.2:p.Ser694Ter