Canonical Allele Identifier: CA278086

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 8805
• ClinVar RCV Id: RCV000009350 ; RCV001003745 ; RCV001376610 ; RCV001823868 ; RCV003137505
• dbSNP Id: rs137852748
• COSMIC: COSM1136571
• MyVariant Identifiers: chr2:g.203421005C>T (hg19) ; chr2:g.202556282C>T (hg38)
• PubMed: PMID:10903931 ; PMID:16429395 ; PMID:16717148 ; PMID:18356561 ; PMID:18503968 ; PMID:20534176 ; PMID:21737554 ; PMID:21801371 ; PMID:23675998 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556282C>T , CM000664.2:g.202556282C>T	GRCh38
NC_000002.11:g.203421005C>T , CM000664.1:g.203421005C>T	GRCh37
NC_000002.10:g.203129250C>T	NCBI36
NG_009363.1:g.184956C>T , LRG_712:g.184956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2617C>T MANE Select	ENSP00000363708.4:p.Arg873Ter
ENST00000638587.1:c.2548C>T	ENSP00000491062.1:n.2548C>T
ENST00000374574.2:c.1586+3394C>T	ENSP00000363702.2:n.1586+3394C>T
ENST00000374580.8:c.2617C>T	ENSP00000363708.4:p.Arg873Ter
NM_001204.6:c.2617C>T , LRG_712t1:c.2617C>T	NP_001195.2:p.Arg873Ter
XM_011511687.1:c.2617C>T	XP_011509989.1:p.Arg873Ter
XM_011511688.1:c.1586+3394C>T	XP_011509990.1:n.1586+3394C>T
NM_001204.7:c.2617C>T MANE Select	NP_001195.2:p.Arg873Ter