Canonical Allele Identifier: CA487509420

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.977C>T
ENST00000556394.2:c.1593C>T	ENSP00000451967.2:p.Leu531=
ENST00000682247.1:c.2041C>T	ENSP00000507213.1:p.Pro681Ser
ENST00000682395.1:n.2516C>T
ENST00000682459.1:n.1755C>T
ENST00000682467.1:c.1911C>T	ENSP00000508062.1:p.Leu637=
ENST00000682795.1:c.2199C>T	ENSP00000507574.1:p.Leu733=
ENST00000682895.1:n.1768C>T
ENST00000682955.1:n.1626C>T
ENST00000683188.1:c.2313C>T
ENST00000683380.1:n.1716C>T
ENST00000683907.1:c.317C>T	ENSP00000507754.1:n.317C>T
ENST00000684259.1:n.3819C>T
ENST00000684538.1:n.1431C>T
ENST00000684549.1:n.1603C>T
ENST00000261534.9:c.2052C>T MANE Select	ENSP00000261534.4:p.Leu684=
ENST00000261534.8:c.2052C>T	ENSP00000261534.4:p.Leu684=
ENST00000452340.7:n.3028C>T
ENST00000554767.5:n.2838C>T
ENST00000555710.1:c.413C>T	ENSP00000451730.1:n.413C>T
ENST00000556394.1:c.107C>T
ENST00000556446.1:n.353C>T
ENST00000602717.5:c.267C>T	ENSP00000487704.1:p.Leu89=
NM_013382.5:c.2052C>T , LRG_844t1:c.2052C>T	NP_037514.2:p.Leu684=
XM_011536675.1:c.2241C>T	XP_011534977.1:p.Leu747=
XM_011536676.1:c.1908C>T	XP_011534978.1:p.Leu636=
XM_011536677.1:c.1782C>T	XP_011534979.1:p.Leu594=
XM_011536679.1:c.1335C>T	XP_011534981.1:p.Leu445=
XR_943416.1:n.2305C>T
XM_011536675.2:c.2241C>T	XP_011534977.1:p.Leu747=
XM_011536676.2:c.1908C>T	XP_011534978.1:p.Leu636=
XM_011536677.3:c.1782C>T	XP_011534979.1:p.Leu594=
XR_001750279.1:n.2338C>T
XR_001750282.1:n.2991C>T
XR_943416.3:n.2303C>T
NM_013382.6:c.2052C>T	NP_037514.2:p.Leu684=
NM_013382.7:c.2052C>T MANE Select	NP_037514.2:p.Leu684=