Canonical Allele Identifier: CA278089
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8806
ClinVar RCV Id: RCV000009351 RCV001003726 RCV001810840 RCV001823869 RCV001851761 RCV003313915
dbSNP Id: rs137852749
gnomAD v4: 2-202552774-G-A
COSMIC: COSM2908019
MyVariant Identifiers: chr2:g.203417497G>A (hg19) chr2:g.202552774G>A (hg38)
ERepo: CA278089/MONDO:0015924/125
PubMed: PMID:3291115 PMID:10903931 PMID:11115378 PMID:15699261 PMID:15965979 PMID:16361068 PMID:16429395 PMID:18356561 PMID:18503968 PMID:19555857 PMID:20096498 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23298310 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552774G>A , CM000664.2:g.202552774G>A GRCh38
NC_000002.11:g.203417497G>A , CM000664.1:g.203417497G>A GRCh37
NC_000002.10:g.203125742G>A NCBI36
NG_009363.1:g.181448G>A , LRG_712:g.181448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1472G>A MANE Select ENSP00000363708.4:p.Arg491Gln
ENST00000638587.1:c.1403G>A ENSP00000491062.1:p.Arg468Gln
ENST00000374574.2:c.1472G>A ENSP00000363702.2:p.Arg491Gln
ENST00000374580.8:c.1472G>A ENSP00000363708.4:p.Arg491Gln
NM_001204.6:c.1472G>A , LRG_712t1:c.1472G>A NP_001195.2:p.Arg491Gln
XM_011511687.1:c.1472G>A XP_011509989.1:p.Arg491Gln
XM_011511688.1:c.1472G>A XP_011509990.1:p.Arg491Gln
NM_001204.7:c.1472G>A MANE Select NP_001195.2:p.Arg491Gln
Search 100 bp 5'
Search 100 bp 3'