Canonical Allele Identifier: CA487509401

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278480-G-T
• MyVariant Identifiers: chr14:g.77744823G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278480G>T , CM000676.2:g.77278480G>T	GRCh38
NC_000014.8:g.77744823G>T , CM000676.1:g.77744823G>T	GRCh37
NC_000014.7:g.76814576G>T	NCBI36
NG_008897.1:g.47403C>A , LRG_844:g.47403C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.986C>A
ENST00000556394.2:c.1602C>A	ENSP00000451967.2:p.Leu534=
ENST00000682247.1:c.2050C>A	ENSP00000507213.1:p.Leu684Met
ENST00000682395.1:n.2525C>A
ENST00000682459.1:n.1764C>A
ENST00000682467.1:c.1920C>A	ENSP00000508062.1:p.Leu640=
ENST00000682795.1:c.2208C>A	ENSP00000507574.1:p.Leu736=
ENST00000682895.1:n.1777C>A
ENST00000682955.1:n.1635C>A
ENST00000683188.1:c.2322C>A
ENST00000683380.1:n.1725C>A
ENST00000683907.1:c.326C>A	ENSP00000507754.1:n.326C>A
ENST00000684259.1:n.3828C>A
ENST00000684538.1:n.1440C>A
ENST00000684549.1:n.1612C>A
ENST00000261534.9:c.2061C>A MANE Select	ENSP00000261534.4:p.Leu687=
ENST00000261534.8:c.2061C>A	ENSP00000261534.4:p.Leu687=
ENST00000452340.7:n.3037C>A
ENST00000554767.5:n.2847C>A
ENST00000555710.1:c.422C>A	ENSP00000451730.1:n.422C>A
ENST00000556394.1:c.116C>A
ENST00000556446.1:n.362C>A
ENST00000602717.5:c.276C>A	ENSP00000487704.1:p.Leu92=
NM_013382.5:c.2061C>A , LRG_844t1:c.2061C>A	NP_037514.2:p.Leu687=
XM_011536675.1:c.2250C>A	XP_011534977.1:p.Leu750=
XM_011536676.1:c.1917C>A	XP_011534978.1:p.Leu639=
XM_011536677.1:c.1791C>A	XP_011534979.1:p.Leu597=
XM_011536679.1:c.1344C>A	XP_011534981.1:p.Leu448=
XR_943416.1:n.2314C>A
XM_011536675.2:c.2250C>A	XP_011534977.1:p.Leu750=
XM_011536676.2:c.1917C>A	XP_011534978.1:p.Leu639=
XM_011536677.3:c.1791C>A	XP_011534979.1:p.Leu597=
XR_001750279.1:n.2347C>A
XR_001750282.1:n.3000C>A
XR_943416.3:n.2312C>A
NM_013382.6:c.2061C>A	NP_037514.2:p.Leu687=
NM_013382.7:c.2061C>A MANE Select	NP_037514.2:p.Leu687=