Canonical Allele Identifier: CA2061247
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425842
ClinVar RCV Id: RCV000488504 RCV002223216 RCV002481548
dbSNP Id: rs200948870
ExAC: 2:203384865 G / A
gnomAD v2: 2-203384865-G-A
gnomAD v3: 2-202520142-G-A
gnomAD v4: 2-202520142-G-A
MyVariant Identifiers: chr2:g.203384865G>A (hg19) chr2:g.202520142G>A (hg38)
PubMed: PMID:16429395 PMID:26387786
ERepo: CA2061247/MONDO:0015924/125
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520142G>A , CM000664.2:g.202520142G>A GRCh38
NC_000002.11:g.203384865G>A , CM000664.1:g.203384865G>A GRCh37
NC_000002.10:g.203093110G>A NCBI36
NG_009363.1:g.148816G>A , LRG_712:g.148816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.908G>A MANE Select ENSP00000363708.4:p.Arg303His
ENST00000638587.1:c.839G>A ENSP00000491062.1:p.Arg280His
ENST00000374574.2:c.908G>A ENSP00000363702.2:p.Arg303His
ENST00000374580.8:c.908G>A ENSP00000363708.4:p.Arg303His
NM_001204.6:c.908G>A , LRG_712t1:c.908G>A NP_001195.2:p.Arg303His
XM_011511687.1:c.908G>A XP_011509989.1:p.Arg303His
XM_011511688.1:c.908G>A XP_011509990.1:p.Arg303His
NM_001204.7:c.908G>A MANE Select NP_001195.2:p.Arg303His
Search 100 bp 5'
Search 100 bp 3'