Canonical Allele Identifier: CA149750

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 8814
• ClinVar RCV Id: RCV000009360 ; RCV003984800
• dbSNP Id: rs483352902
• MyVariant Identifiers: chr2:g.203242241del (hg19) ; chr2:g.202377518del (hg38)
• PubMed: PMID:11115378 ; PMID:12446270 ; PMID:16429395 ; PMID:24784157

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377518del , CM000664.2:g.202377518del	GRCh38
NC_000002.11:g.203242241del , CM000664.1:g.203242241del	GRCh37
NC_000002.10:g.202950486del	NCBI36
NG_009363.1:g.6192del , LRG_712:g.6192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.44del MANE Select	ENSP00000363708.4:p.Pro15HisfsTer?
ENST00000374574.2:c.44del	ENSP00000363702.2:p.Pro15HisfsTer?
ENST00000374580.8:c.44del	ENSP00000363708.4:p.Pro15HisfsTer?
NM_001204.6:c.44del , LRG_712t1:c.44del	NP_001195.2:p.Pro15HisfsTer?
XM_011511687.1:c.44del	XP_011509989.1:p.Pro15HisfsTer?
XM_011511688.1:c.44del	XP_011509990.1:p.Pro15HisfsTer?
NM_001204.7:c.44del MANE Select	NP_001195.2:p.Pro15HisfsTer?