Canonical Allele Identifier: CA390517378

Gene: POMT2

Linked Data

• dbSNP Id: rs267606968
• gnomAD v4: 14-77285520-C-T
• MyVariant Identifiers: chr14:g.77751863C>T (hg19) ; chr14:g.77285520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77285520C>T , CM000676.2:g.77285520C>T	GRCh38
NC_000014.8:g.77751863C>T , CM000676.1:g.77751863C>T	GRCh37
NC_000014.7:g.76821616C>T	NCBI36
NG_008897.1:g.40363G>A , LRG_844:g.40363G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555134.2:n.84G>A
ENST00000556394.2:c.986G>A	ENSP00000451967.2:p.Gly329Asp
ENST00000682247.1:c.1445G>A	ENSP00000507213.1:p.Gly482Asp
ENST00000682382.1:c.1017G>A
ENST00000682395.1:n.1623G>A
ENST00000682459.1:n.1148G>A
ENST00000682467.1:c.1445G>A	ENSP00000508062.1:p.Gly482Asp
ENST00000682560.1:c.113G>A	ENSP00000507033.1:p.Gly38Asp
ENST00000682795.1:c.1445G>A	ENSP00000507574.1:p.Gly482Asp
ENST00000682895.1:n.1161G>A
ENST00000682955.1:n.733G>A
ENST00000683188.1:c.1420G>A
ENST00000683380.1:n.1109G>A
ENST00000683828.1:c.1154G>A
ENST00000684259.1:n.1296G>A
ENST00000684444.1:c.196G>A
ENST00000684549.1:n.996G>A
ENST00000261534.9:c.1445G>A MANE Select	ENSP00000261534.4:p.Gly482Asp
ENST00000261534.8:c.1445G>A	ENSP00000261534.4:p.Gly482Asp
ENST00000452340.7:n.1468G>A
ENST00000553880.5:n.316G>A
ENST00000554767.5:n.2231G>A
ENST00000554884.5:n.437G>A
ENST00000555134.1:n.84G>A
ENST00000557675.5:n.535G>A
NM_013382.5:c.1445G>A , LRG_844t1:c.1445G>A	NP_037514.2:p.Gly482Asp
XM_011536675.1:c.1445G>A	XP_011534977.1:p.Gly482Asp
XM_011536676.1:c.1112G>A	XP_011534978.1:p.Gly371Asp
XM_011536677.1:c.986G>A	XP_011534979.1:p.Gly329Asp
XM_011536678.1:c.1445G>A	XP_011534980.1:p.Gly482Asp
XM_011536679.1:c.539G>A	XP_011534981.1:p.Gly180Asp
XR_943416.1:n.1648G>A
XM_011536675.2:c.1445G>A	XP_011534977.1:p.Gly482Asp
XM_011536676.2:c.1112G>A	XP_011534978.1:p.Gly371Asp
XM_011536677.3:c.986G>A	XP_011534979.1:p.Gly329Asp
XR_001750279.1:n.1645G>A
XR_001750282.1:n.2098G>A
XR_943416.3:n.1646G>A
NM_013382.6:c.1445G>A	NP_037514.2:p.Gly482Asp
NM_013382.7:c.1445G>A MANE Select	NP_037514.2:p.Gly482Asp