Canonical Allele Identifier: CA2061589

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 333650
• ClinVar RCV Id: RCV000374047 ; RCV002282121
• dbSNP Id: rs575479720
• ExAC: 2:203421189 G / C
• gnomAD v2: 2-203421189-G-C
• gnomAD v3: 2-202556466-G-C
• gnomAD v4: 2-202556466-G-C
• MyVariant Identifiers: chr2:g.203421189G>C (hg19) ; chr2:g.202556466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556466G>C , CM000664.2:g.202556466G>C	GRCh38
NC_000002.11:g.203421189G>C , CM000664.1:g.203421189G>C	GRCh37
NC_000002.10:g.203129434G>C	NCBI36
NG_009363.1:g.185140G>C , LRG_712:g.185140G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.2801G>C MANE Select	ENSP00000363708.4:p.Arg934Thr
ENST00000638587.1:c.2732G>C	ENSP00000491062.1:n.2732G>C
ENST00000374574.2:c.1587-3230G>C	ENSP00000363702.2:n.1587-3230G>C
ENST00000374580.8:c.2801G>C	ENSP00000363708.4:p.Arg934Thr
NM_001204.6:c.2801G>C , LRG_712t1:c.2801G>C	NP_001195.2:p.Arg934Thr
XM_011511687.1:c.2801G>C	XP_011509989.1:p.Arg934Thr
XM_011511688.1:c.1587-3230G>C	XP_011509990.1:n.1587-3230G>C
NM_001204.7:c.2801G>C MANE Select	NP_001195.2:p.Arg934Thr