Canonical Allele Identifier: CA913191140

Gene: POMT2

Linked Data

• ClinVar Variation Id: 595917
• ClinVar RCV Id: RCV000731600 ; RCV002535223
• dbSNP Id: rs1566656247
• gnomAD v4: 14-77301233-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301238del , CM000676.2:g.77301238del	GRCh38
NC_000014.8:g.77767581del , CM000676.1:g.77767581del	GRCh37
NC_000014.7:g.76837334del	NCBI36
NG_008897.1:g.24649del , LRG_844:g.24649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.125del	ENSP00000508202.1:p.Pro42LeufsTer11
ENST00000556394.2:c.358-1673del	ENSP00000451967.2:n.358-1673del
ENST00000556880.6:n.696del
ENST00000557289.2:c.16del
ENST00000682247.1:c.672del	ENSP00000507213.1:p.Trp225GlyfsTer7
ENST00000682382.1:c.496-2463del
ENST00000682395.1:n.401del
ENST00000682459.1:n.336del
ENST00000682467.1:c.672del	ENSP00000508062.1:p.Trp225GlyfsTer7
ENST00000682795.1:c.672del	ENSP00000507574.1:p.Trp225GlyfsTer7
ENST00000682895.1:n.388del
ENST00000682955.1:n.212-2463del
ENST00000683167.1:c.16del
ENST00000683188.1:c.343-1673del
ENST00000683300.1:c.109+3458del	ENSP00000507630.1:n.109+3458del
ENST00000683328.1:c.109+3458del	ENSP00000508096.1:n.109+3458del
ENST00000683380.1:n.336del
ENST00000683398.1:c.16del
ENST00000683551.1:c.109+1601del
ENST00000683828.1:c.525+1601del
ENST00000684259.1:n.523del
ENST00000684549.1:n.368-1673del
ENST00000684554.1:c.16del
ENST00000261534.9:c.672del MANE Select	ENSP00000261534.4:p.Trp225GlyfsTer7
ENST00000261534.8:c.672del	ENSP00000261534.4:p.Trp225GlyfsTer7
ENST00000452340.7:n.695del
ENST00000553863.5:n.336del
ENST00000554948.1:c.399del	ENSP00000452060.1:p.Trp134GlyfsTer?
ENST00000555675.5:n.388del
ENST00000556326.5:c.*338del	ENSP00000450630.1:n.*338del
ENST00000557289.1:c.56-1673del	ENSP00000451115.1:n.56-1673del
NM_013382.5:c.672del , LRG_844t1:c.672del	NP_037514.2:p.Trp225GlyfsTer7
XM_011536675.1:c.672del	XP_011534977.1:p.Trp225GlyfsTer7
XM_011536676.1:c.339del	XP_011534978.1:p.Trp114GlyfsTer7
XM_011536677.1:c.547+3458del	XP_011534979.1:n.547+3458del
XM_011536678.1:c.672del	XP_011534980.1:p.Trp225GlyfsTer7
XM_011536679.1:c.-90-1673del	XP_011534981.1:n.-90-1673del
XM_011536680.1:c.672del	XP_011534982.1:p.Trp225GlyfsTer7
XR_943416.1:n.875del
XM_011536675.2:c.672del	XP_011534977.1:p.Trp225GlyfsTer7
XM_011536676.2:c.339del	XP_011534978.1:p.Trp114GlyfsTer7
XM_011536677.3:c.547+3458del	XP_011534979.1:n.547+3458del
XR_001750279.1:n.872del
XR_001750282.1:n.876del
XR_943416.3:n.873del
NM_013382.6:c.672del	NP_037514.2:p.Trp225GlyfsTer7
NM_013382.7:c.672del MANE Select	NP_037514.2:p.Trp225GlyfsTer7