Canonical Allele Identifier: CA2061553

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425999
• ClinVar RCV Id: RCV000488657 ; RCV001391335 ; RCV001662473 ; RCV004551615
• dbSNP Id: rs201781338
• ExAC: 2:203421006 G / A
• gnomAD v2: 2-203421006-G-A
• gnomAD v3: 2-202556283-G-A
• gnomAD v4: 2-202556283-G-A
• COSMIC: COSM1404601
• MyVariant Identifiers: chr2:g.203421006G>A (hg19) ; chr2:g.202556283G>A (hg38)
• ERepo: CA2061553/MONDO:0015924/125
• PubMed: PMID:18356561 ; PMID:20534176 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556283G>A , CM000664.2:g.202556283G>A	GRCh38
NC_000002.11:g.203421006G>A , CM000664.1:g.203421006G>A	GRCh37
NC_000002.10:g.203129251G>A	NCBI36
NG_009363.1:g.184957G>A , LRG_712:g.184957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2618G>A MANE Select	ENSP00000363708.4:p.Arg873Gln
ENST00000638587.1:c.2549G>A	ENSP00000491062.1:n.2549G>A
ENST00000374574.2:c.1586+3395G>A	ENSP00000363702.2:n.1586+3395G>A
ENST00000374580.8:c.2618G>A	ENSP00000363708.4:p.Arg873Gln
NM_001204.6:c.2618G>A , LRG_712t1:c.2618G>A	NP_001195.2:p.Arg873Gln
XM_011511687.1:c.2618G>A	XP_011509989.1:p.Arg873Gln
XM_011511688.1:c.1586+3395G>A	XP_011509990.1:n.1586+3395G>A
NM_001204.7:c.2618G>A MANE Select	NP_001195.2:p.Arg873Gln