Canonical Allele Identifier: CA2061617

Gene: BMPR2

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)
• PubMed: PMID:11893684
• ERepo: CA2061617/MONDO:0015924/125

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