Canonical Allele Identifier: CA487509318

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278452-G-A
• MyVariant Identifiers: chr14:g.77744795G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278452G>A , CM000676.2:g.77278452G>A	GRCh38
NC_000014.8:g.77744795G>A , CM000676.1:g.77744795G>A	GRCh37
NC_000014.7:g.76814548G>A	NCBI36
NG_008897.1:g.47431C>T , LRG_844:g.47431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1014C>T
ENST00000556394.2:c.1630C>T	ENSP00000451967.2:p.Leu544=
ENST00000682247.1:c.2078C>T	ENSP00000507213.1:p.Pro693Leu
ENST00000682395.1:n.2553C>T
ENST00000682459.1:n.1792C>T
ENST00000682467.1:c.1948C>T	ENSP00000508062.1:p.Leu650=
ENST00000682795.1:c.2236C>T	ENSP00000507574.1:p.Leu746=
ENST00000682895.1:n.1805C>T
ENST00000682955.1:n.1663C>T
ENST00000683188.1:c.2350C>T
ENST00000683380.1:n.1753C>T
ENST00000683907.1:c.354C>T	ENSP00000507754.1:n.354C>T
ENST00000684259.1:n.3856C>T
ENST00000684538.1:n.1468C>T
ENST00000684549.1:n.1640C>T
ENST00000261534.9:c.2089C>T MANE Select	ENSP00000261534.4:p.Leu697=
ENST00000261534.8:c.2089C>T	ENSP00000261534.4:p.Leu697=
ENST00000452340.7:n.3065C>T
ENST00000554767.5:n.2875C>T
ENST00000555710.1:c.450C>T	ENSP00000451730.1:n.450C>T
ENST00000556394.1:c.144C>T
ENST00000556446.1:n.390C>T
ENST00000602717.5:c.304C>T	ENSP00000487704.1:p.Leu102=
NM_013382.5:c.2089C>T , LRG_844t1:c.2089C>T	NP_037514.2:p.Leu697=
XM_011536675.1:c.2278C>T	XP_011534977.1:p.Leu760=
XM_011536676.1:c.1945C>T	XP_011534978.1:p.Leu649=
XM_011536677.1:c.1819C>T	XP_011534979.1:p.Leu607=
XM_011536679.1:c.1372C>T	XP_011534981.1:p.Leu458=
XR_943416.1:n.2342C>T
XM_011536675.2:c.2278C>T	XP_011534977.1:p.Leu760=
XM_011536676.2:c.1945C>T	XP_011534978.1:p.Leu649=
XM_011536677.3:c.1819C>T	XP_011534979.1:p.Leu607=
XR_001750279.1:n.2375C>T
XR_001750282.1:n.3028C>T
XR_943416.3:n.2340C>T
NM_013382.6:c.2089C>T	NP_037514.2:p.Leu697=
NM_013382.7:c.2089C>T MANE Select	NP_037514.2:p.Leu697=