Canonical Allele Identifier: CA2148328869

Gene: POMT2

Linked Data

• dbSNP Id: rs1891228600

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306339del , CM000676.2:g.77306339del	GRCh38
NC_000014.8:g.77772682del , CM000676.1:g.77772682del	GRCh37
NC_000014.7:g.76842435del	NCBI36
NG_008897.1:g.19545del , LRG_844:g.19545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.166del
ENST00000556394.2:c.249-1538del	ENSP00000451967.2:n.249-1538del
ENST00000556880.6:n.370del
ENST00000682247.1:c.437del	ENSP00000507213.1:p.Gly146AspfsTer?
ENST00000682382.1:c.385del
ENST00000682395.1:n.166del
ENST00000682459.1:n.102+64del
ENST00000682467.1:c.437del	ENSP00000508062.1:p.Gly146AspfsTer?
ENST00000682795.1:c.437del	ENSP00000507574.1:p.Gly146AspfsTer?
ENST00000682895.1:n.153del
ENST00000682955.1:n.102+64del
ENST00000683188.1:c.232del
ENST00000683380.1:n.102+64del
ENST00000683828.1:c.306del
ENST00000684066.1:n.132del
ENST00000684102.1:n.183del
ENST00000684259.1:n.288del
ENST00000684479.1:n.104del
ENST00000684549.1:n.166del
ENST00000684600.1:c.251del
ENST00000684670.1:n.104del
ENST00000684746.1:n.134del
ENST00000261534.9:c.437del MANE Select	ENSP00000261534.4:p.Gly146AspfsTer?
ENST00000261534.8:c.437del	ENSP00000261534.4:p.Gly146AspfsTer?
ENST00000452340.7:n.460del
ENST00000553863.5:n.102+64del
ENST00000554948.1:c.164del	ENSP00000452060.1:p.Gly55AspfsTer?
ENST00000555675.5:n.153del
ENST00000555788.5:n.271del
ENST00000556326.5:c.*103del	ENSP00000450630.1:n.*103del
ENST00000556880.5:n.370del
ENST00000557525.1:n.527del
NM_013382.5:c.437del , LRG_844t1:c.437del	NP_037514.2:p.Gly146AspfsTer?
XM_011536675.1:c.437del	XP_011534977.1:p.Gly146AspfsTer?
XM_011536676.1:c.104del	XP_011534978.1:p.Gly35AspfsTer?
XM_011536677.1:c.437del	XP_011534979.1:p.Gly146AspfsTer?
XM_011536678.1:c.437del	XP_011534980.1:p.Gly146AspfsTer?
XM_011536680.1:c.437del	XP_011534982.1:p.Gly146AspfsTer?
XR_943416.1:n.640del
XM_011536675.2:c.437del	XP_011534977.1:p.Gly146AspfsTer?
XM_011536676.2:c.104del	XP_011534978.1:p.Gly35AspfsTer?
XM_011536677.3:c.437del	XP_011534979.1:p.Gly146AspfsTer?
XR_001750279.1:n.637del
XR_001750282.1:n.641del
XR_943416.3:n.638del
NM_013382.6:c.437del	NP_037514.2:p.Gly146AspfsTer?
NM_013382.7:c.437del MANE Select	NP_037514.2:p.Gly146AspfsTer?