Canonical Allele Identifier: CA645293805

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425804
• ClinVar RCV Id: RCV000488721
• dbSNP Id: rs1085307243
• MyVariant Identifiers: chr2:g.203379632_203379654del (hg19) ; chr2:g.202514909_202514931del (hg38)
• PubMed: PMID:18356561 ; PMID:20534176 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202514909_202514931del , CM000664.2:g.202514909_202514931del	GRCh38
NC_000002.11:g.203379632_203379654del , CM000664.1:g.203379632_203379654del	GRCh37
NC_000002.10:g.203087877_203087899del	NCBI36
NG_009363.1:g.143583_143605del , LRG_712:g.143583_143605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.551_573del MANE Select	ENSP00000363708.4:p.His184ArgfsTer8
ENST00000638587.1:c.482_504del	ENSP00000491062.1:p.His161ArgfsTer8
ENST00000374574.2:c.551_573del	ENSP00000363702.2:p.His184ArgfsTer8
ENST00000374580.8:c.551_573del	ENSP00000363708.4:p.His184ArgfsTer8
NM_001204.6:c.551_573del , LRG_712t1:c.551_573del	NP_001195.2:p.His184ArgfsTer8
XM_011511687.1:c.551_573del	XP_011509989.1:p.His184ArgfsTer8
XM_011511688.1:c.551_573del	XP_011509990.1:p.His184ArgfsTer8
NM_001204.7:c.551_573del MANE Select	NP_001195.2:p.His184ArgfsTer8