Canonical Allele Identifier: CA645293975
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425870
ClinVar RCV Id: RCV000488665
dbSNP Id: rs1085307295
PubMed: PMID:21737554 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530919_202530924delinsG , CM000664.2:g.202530919_202530924delinsG GRCh38
NC_000002.11:g.203395642_203395647delinsG , CM000664.1:g.203395642_203395647delinsG GRCh37
NC_000002.10:g.203103887_203103892delinsG NCBI36
NG_009363.1:g.159593_159598delinsG , LRG_712:g.159593_159598delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1093_1098delinsG MANE Select ENSP00000363708.4:p.Arg365GlyfsTer5
ENST00000638587.1:c.1024_1029delinsG ENSP00000491062.1:p.Arg342GlyfsTer5
ENST00000374574.2:c.1093_1098delinsG ENSP00000363702.2:p.Arg365GlyfsTer5
ENST00000374580.8:c.1093_1098delinsG ENSP00000363708.4:p.Arg365GlyfsTer5
NM_001204.6:c.1093_1098delinsG , LRG_712t1:c.1093_1098delinsG NP_001195.2:p.Arg365GlyfsTer5
XM_011511687.1:c.1093_1098delinsG XP_011509989.1:p.Arg365GlyfsTer5
XM_011511688.1:c.1093_1098delinsG XP_011509990.1:p.Arg365GlyfsTer5
NM_001204.7:c.1093_1098delinsG MANE Select NP_001195.2:p.Arg365GlyfsTer5
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