Canonical Allele Identifier: CA390514145

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2099473
• ClinVar RCV Id: RCV003023015
• gnomAD v4: 14-77278834-C-T
• MyVariant Identifiers: chr14:g.77745177C>T (hg19) ; chr14:g.77278834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278834C>T , CM000676.2:g.77278834C>T	GRCh38
NC_000014.8:g.77745177C>T , CM000676.1:g.77745177C>T	GRCh37
NC_000014.7:g.76814930C>T	NCBI36
NG_008897.1:g.47049G>A , LRG_844:g.47049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.852G>A
ENST00000556394.2:c.1468G>A	ENSP00000451967.2:p.Val490Ile
ENST00000682128.1:c.228G>A	ENSP00000506976.1:n.228G>A
ENST00000682247.1:c.1916G>A	ENSP00000507213.1:p.Gly639Asp
ENST00000682395.1:n.2391G>A
ENST00000682459.1:n.1630G>A
ENST00000682467.1:c.1892-326G>A	ENSP00000508062.1:n.1892-326G>A
ENST00000682615.1:n.281G>A
ENST00000682795.1:c.2074G>A	ENSP00000507574.1:p.Val692Ile
ENST00000682895.1:n.1643G>A
ENST00000682955.1:n.1501G>A
ENST00000683095.1:c.333G>A	ENSP00000508040.1:n.333G>A
ENST00000683188.1:c.2188G>A
ENST00000683380.1:n.1591G>A
ENST00000683828.1:c.1636G>A
ENST00000683907.1:c.192G>A	ENSP00000507754.1:p.Arg64=
ENST00000684172.1:c.303G>A	ENSP00000508391.1:n.303G>A
ENST00000684259.1:n.3694G>A
ENST00000684538.1:n.1306G>A
ENST00000684549.1:n.1478G>A
ENST00000261534.9:c.1927G>A MANE Select	ENSP00000261534.4:p.Val643Ile
ENST00000261534.8:c.1927G>A	ENSP00000261534.4:p.Val643Ile
ENST00000452340.7:n.2903G>A
ENST00000554767.5:n.2713G>A
ENST00000555134.1:n.852G>A
ENST00000555710.1:c.288G>A	ENSP00000451730.1:n.288G>A
ENST00000556171.1:c.519G>A
ENST00000556394.1:c.88-326G>A
ENST00000556446.1:n.228G>A
ENST00000602717.5:c.142G>A	ENSP00000487704.1:p.Val48Ile
NM_013382.5:c.1927G>A , LRG_844t1:c.1927G>A	NP_037514.2:p.Val643Ile
XM_011536675.1:c.2116G>A	XP_011534977.1:p.Val706Ile
XM_011536676.1:c.1783G>A	XP_011534978.1:p.Val595Ile
XM_011536677.1:c.1657G>A	XP_011534979.1:p.Val553Ile
XM_011536679.1:c.1210G>A	XP_011534981.1:p.Val404Ile
XR_943416.1:n.2180G>A
XM_011536675.2:c.2116G>A	XP_011534977.1:p.Val706Ile
XM_011536676.2:c.1783G>A	XP_011534978.1:p.Val595Ile
XM_011536677.3:c.1657G>A	XP_011534979.1:p.Val553Ile
XR_001750279.1:n.2213G>A
XR_001750282.1:n.2866G>A
XR_943416.3:n.2178G>A
NM_013382.6:c.1927G>A	NP_037514.2:p.Val643Ile
NM_013382.7:c.1927G>A MANE Select	NP_037514.2:p.Val643Ile