Canonical Allele Identifier: CA119936
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8813
ClinVar RCV Id: RCV000009359 RCV000508281 RCV000735374 RCV002272013 RCV002512940 RCV004549351
dbSNP Id: rs137852754
ExAC: 2:203379626 G / A
gnomAD v2: 2-203379626-G-A
gnomAD v3: 2-202514903-G-A
gnomAD v4: 2-202514903-G-A
MyVariant Identifiers: chr2:g.203379626G>A (hg19) chr2:g.202514903G>A (hg38)
ERepo: CA119936/MONDO:0015924/125
PubMed: PMID:12358323
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202514903G>A , CM000664.2:g.202514903G>A GRCh38
NC_000002.11:g.203379626G>A , CM000664.1:g.203379626G>A GRCh37
NC_000002.10:g.203087871G>A NCBI36
NG_009363.1:g.143577G>A , LRG_712:g.143577G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.545G>A MANE Select ENSP00000363708.4:p.Gly182Asp
ENST00000638587.1:c.476G>A ENSP00000491062.1:p.Gly159Asp
ENST00000374574.2:c.545G>A ENSP00000363702.2:p.Gly182Asp
ENST00000374580.8:c.545G>A ENSP00000363708.4:p.Gly182Asp
NM_001204.6:c.545G>A , LRG_712t1:c.545G>A NP_001195.2:p.Gly182Asp
XM_011511687.1:c.545G>A XP_011509989.1:p.Gly182Asp
XM_011511688.1:c.545G>A XP_011509990.1:p.Gly182Asp
NM_001204.7:c.545G>A MANE Select NP_001195.2:p.Gly182Asp
Search 100 bp 5'
Search 100 bp 3'