Canonical Allele Identifier: CA487509462

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2937437
• ClinVar RCV Id: RCV003794067
• dbSNP Id: rs1459826029
• gnomAD v2: 14-77744850-G-A
• gnomAD v4: 14-77278507-G-A
• MyVariant Identifiers: chr14:g.77744850G>A (hg19) ; chr14:g.77278507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278507G>A , CM000676.2:g.77278507G>A	GRCh38
NC_000014.8:g.77744850G>A , CM000676.1:g.77744850G>A	GRCh37
NC_000014.7:g.76814603G>A	NCBI36
NG_008897.1:g.47376C>T , LRG_844:g.47376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.959C>T
ENST00000556394.2:c.1575C>T	ENSP00000451967.2:p.Gly525=
ENST00000682247.1:c.2023C>T	ENSP00000507213.1:p.His675Tyr
ENST00000682395.1:n.2498C>T
ENST00000682459.1:n.1737C>T
ENST00000682467.1:c.1893C>T	ENSP00000508062.1:p.Gly631=
ENST00000682795.1:c.2181C>T	ENSP00000507574.1:p.Gly727=
ENST00000682895.1:n.1750C>T
ENST00000682955.1:n.1608C>T
ENST00000683188.1:c.2295C>T
ENST00000683380.1:n.1698C>T
ENST00000683907.1:c.299C>T	ENSP00000507754.1:n.299C>T
ENST00000684259.1:n.3801C>T
ENST00000684538.1:n.1413C>T
ENST00000684549.1:n.1585C>T
ENST00000261534.9:c.2034C>T MANE Select	ENSP00000261534.4:p.Gly678=
ENST00000261534.8:c.2034C>T	ENSP00000261534.4:p.Gly678=
ENST00000452340.7:n.3010C>T
ENST00000554767.5:n.2820C>T
ENST00000555710.1:c.395C>T	ENSP00000451730.1:n.395C>T
ENST00000556394.1:c.89C>T
ENST00000556446.1:n.335C>T
ENST00000602717.5:c.249C>T	ENSP00000487704.1:p.Gly83=
NM_013382.5:c.2034C>T , LRG_844t1:c.2034C>T	NP_037514.2:p.Gly678=
XM_011536675.1:c.2223C>T	XP_011534977.1:p.Gly741=
XM_011536676.1:c.1890C>T	XP_011534978.1:p.Gly630=
XM_011536677.1:c.1764C>T	XP_011534979.1:p.Gly588=
XM_011536679.1:c.1317C>T	XP_011534981.1:p.Gly439=
XR_943416.1:n.2287C>T
XM_011536675.2:c.2223C>T	XP_011534977.1:p.Gly741=
XM_011536676.2:c.1890C>T	XP_011534978.1:p.Gly630=
XM_011536677.3:c.1764C>T	XP_011534979.1:p.Gly588=
XR_001750279.1:n.2320C>T
XR_001750282.1:n.2973C>T
XR_943416.3:n.2285C>T
NM_013382.6:c.2034C>T	NP_037514.2:p.Gly678=
NM_013382.7:c.2034C>T MANE Select	NP_037514.2:p.Gly678=