Canonical Allele Identifier: CA487509422

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278489-G-T
• MyVariant Identifiers: chr14:g.77744832G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278489G>T , CM000676.2:g.77278489G>T	GRCh38
NC_000014.8:g.77744832G>T , CM000676.1:g.77744832G>T	GRCh37
NC_000014.7:g.76814585G>T	NCBI36
NG_008897.1:g.47394C>A , LRG_844:g.47394C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.977C>A
ENST00000556394.2:c.1593C>A	ENSP00000451967.2:p.Leu531=
ENST00000682247.1:c.2041C>A	ENSP00000507213.1:p.Pro681Thr
ENST00000682395.1:n.2516C>A
ENST00000682459.1:n.1755C>A
ENST00000682467.1:c.1911C>A	ENSP00000508062.1:p.Leu637=
ENST00000682795.1:c.2199C>A	ENSP00000507574.1:p.Leu733=
ENST00000682895.1:n.1768C>A
ENST00000682955.1:n.1626C>A
ENST00000683188.1:c.2313C>A
ENST00000683380.1:n.1716C>A
ENST00000683907.1:c.317C>A	ENSP00000507754.1:n.317C>A
ENST00000684259.1:n.3819C>A
ENST00000684538.1:n.1431C>A
ENST00000684549.1:n.1603C>A
ENST00000261534.9:c.2052C>A MANE Select	ENSP00000261534.4:p.Leu684=
ENST00000261534.8:c.2052C>A	ENSP00000261534.4:p.Leu684=
ENST00000452340.7:n.3028C>A
ENST00000554767.5:n.2838C>A
ENST00000555710.1:c.413C>A	ENSP00000451730.1:n.413C>A
ENST00000556394.1:c.107C>A
ENST00000556446.1:n.353C>A
ENST00000602717.5:c.267C>A	ENSP00000487704.1:p.Leu89=
NM_013382.5:c.2052C>A , LRG_844t1:c.2052C>A	NP_037514.2:p.Leu684=
XM_011536675.1:c.2241C>A	XP_011534977.1:p.Leu747=
XM_011536676.1:c.1908C>A	XP_011534978.1:p.Leu636=
XM_011536677.1:c.1782C>A	XP_011534979.1:p.Leu594=
XM_011536679.1:c.1335C>A	XP_011534981.1:p.Leu445=
XR_943416.1:n.2305C>A
XM_011536675.2:c.2241C>A	XP_011534977.1:p.Leu747=
XM_011536676.2:c.1908C>A	XP_011534978.1:p.Leu636=
XM_011536677.3:c.1782C>A	XP_011534979.1:p.Leu594=
XR_001750279.1:n.2338C>A
XR_001750282.1:n.2991C>A
XR_943416.3:n.2303C>A
NM_013382.6:c.2052C>A	NP_037514.2:p.Leu684=
NM_013382.7:c.2052C>A MANE Select	NP_037514.2:p.Leu684=