Canonical Allele Identifier: CA252639

Gene: POMT2

Linked Data

• ClinVar Variation Id: 3236
• ClinVar RCV Id: RCV002512703
• dbSNP Id: rs267606968
• gnomAD v2: 14-77751863-C-A
• gnomAD v4: 14-77285520-C-A
• MyVariant Identifiers: chr14:g.77751863C>A (hg19) ; chr14:g.77285520C>A (hg38)
• PubMed: PMID:19138766

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000555134.2:n.84G>T
ENST00000556394.2:c.986G>T	ENSP00000451967.2:p.Gly329Val
ENST00000682247.1:c.1445G>T	ENSP00000507213.1:p.Gly482Val
ENST00000682382.1:c.1017G>T
ENST00000682395.1:n.1623G>T
ENST00000682459.1:n.1148G>T
ENST00000682467.1:c.1445G>T	ENSP00000508062.1:p.Gly482Val
ENST00000682560.1:c.113G>T	ENSP00000507033.1:p.Gly38Val
ENST00000682795.1:c.1445G>T	ENSP00000507574.1:p.Gly482Val
ENST00000682895.1:n.1161G>T
ENST00000682955.1:n.733G>T
ENST00000683188.1:c.1420G>T
ENST00000683380.1:n.1109G>T
ENST00000683828.1:c.1154G>T
ENST00000684259.1:n.1296G>T
ENST00000684444.1:c.196G>T
ENST00000684549.1:n.996G>T
ENST00000261534.9:c.1445G>T MANE Select	ENSP00000261534.4:p.Gly482Val
ENST00000261534.8:c.1445G>T	ENSP00000261534.4:p.Gly482Val
ENST00000452340.7:n.1468G>T
ENST00000553880.5:n.316G>T
ENST00000554767.5:n.2231G>T
ENST00000554884.5:n.437G>T
ENST00000555134.1:n.84G>T
ENST00000557675.5:n.535G>T
NM_013382.5:c.1445G>T , LRG_844t1:c.1445G>T	NP_037514.2:p.Gly482Val
XM_011536675.1:c.1445G>T	XP_011534977.1:p.Gly482Val
XM_011536676.1:c.1112G>T	XP_011534978.1:p.Gly371Val
XM_011536677.1:c.986G>T	XP_011534979.1:p.Gly329Val
XM_011536678.1:c.1445G>T	XP_011534980.1:p.Gly482Val
XM_011536679.1:c.539G>T	XP_011534981.1:p.Gly180Val
XR_943416.1:n.1648G>T
XM_011536675.2:c.1445G>T	XP_011534977.1:p.Gly482Val
XM_011536676.2:c.1112G>T	XP_011534978.1:p.Gly371Val
XM_011536677.3:c.986G>T	XP_011534979.1:p.Gly329Val
XR_001750279.1:n.1645G>T
XR_001750282.1:n.2098G>T
XR_943416.3:n.1646G>T
NM_013382.6:c.1445G>T	NP_037514.2:p.Gly482Val
NM_013382.7:c.1445G>T MANE Select	NP_037514.2:p.Gly482Val