Canonical Allele Identifier: CA645532636
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2737154
ClinVar RCV Id: RCV003596867
COSMIC: COSM1404592
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542350_202542351del , CM000664.2:g.202542350_202542351del GRCh38
NC_000002.11:g.203407073_203407074del , CM000664.1:g.203407073_203407074del GRCh37
NC_000002.10:g.203115318_203115319del NCBI36
NG_009363.1:g.171024_171025del , LRG_712:g.171024_171025del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1316_1317del MANE Select ENSP00000363708.4:p.Glu439GlyfsTer8
ENST00000638587.1:c.1247_1248del ENSP00000491062.1:p.Glu416GlyfsTer8
ENST00000374574.2:c.1316_1317del ENSP00000363702.2:p.Glu439GlyfsTer8
ENST00000374580.8:c.1316_1317del ENSP00000363708.4:p.Glu439GlyfsTer8
NM_001204.6:c.1316_1317del , LRG_712t1:c.1316_1317del NP_001195.2:p.Glu439GlyfsTer8
XM_011511687.1:c.1316_1317del XP_011509989.1:p.Glu439GlyfsTer8
XM_011511688.1:c.1316_1317del XP_011509990.1:p.Glu439GlyfsTer8
NM_001204.7:c.1316_1317del MANE Select NP_001195.2:p.Glu439GlyfsTer8
Search 100 bp 5'
Search 100 bp 3'