Canonical Allele Identifier: CA2061617
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 333652
ClinVar RCV Id: RCV000373321 RCV000414928 RCV004549761 RCV001420986 RCV001812873
dbSNP Id: rs148099152
ExAC: 2:203424500 G / A
gnomAD v2: 2-203424500-G-A
gnomAD v3: 2-202559777-G-A
gnomAD v4: 2-202559777-G-A
MyVariant Identifiers: chr2:g.203424500G>A (hg19) chr2:g.202559777G>A (hg38)
ERepo: CA2061617/MONDO:0015924/125
PubMed: PMID:11893684
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202559777G>A , CM000664.2:g.202559777G>A GRCh38
NC_000002.11:g.203424500G>A , CM000664.1:g.203424500G>A GRCh37
NC_000002.10:g.203132745G>A NCBI36
NG_009363.1:g.188451G>A , LRG_712:g.188451G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2948G>A MANE Select ENSP00000363708.4:p.Arg983Gln
ENST00000638587.1:c.2879G>A ENSP00000491062.1:n.2879G>A
ENST00000374574.2:c.*75G>A ENSP00000363702.2:n.*75G>A
ENST00000374580.8:c.2948G>A ENSP00000363708.4:p.Arg983Gln
NM_001204.6:c.2948G>A , LRG_712t1:c.2948G>A NP_001195.2:p.Arg983Gln
XM_011511687.1:c.2945G>A XP_011509989.1:p.Arg982Gln
XM_011511688.1:c.*75G>A XP_011509990.1:n.*75G>A
NM_001204.7:c.2948G>A MANE Select NP_001195.2:p.Arg983Gln
Search 100 bp 5'
Search 100 bp 3'