Canonical Allele Identifier: CA645293959

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425994
• ClinVar RCV Id: RCV000488642
• dbSNP Id: rs1085307393
• MyVariant Identifiers: chr2:g.203420915del (hg19) ; chr2:g.202556192del (hg38)
• PubMed: PMID:16429395 ; PMID:16717148 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556192del , CM000664.2:g.202556192del	GRCh38
NC_000002.11:g.203420915del , CM000664.1:g.203420915del	GRCh37
NC_000002.10:g.203129160del	NCBI36
NG_009363.1:g.184866del , LRG_712:g.184866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2527del MANE Select	ENSP00000363708.4:p.Ala843ProfsTer16
ENST00000638587.1:c.2458del	ENSP00000491062.1:n.2458del
ENST00000374574.2:c.1586+3304del	ENSP00000363702.2:n.1586+3304del
ENST00000374580.8:c.2527del	ENSP00000363708.4:p.Ala843ProfsTer16
NM_001204.6:c.2527del , LRG_712t1:c.2527del	NP_001195.2:p.Ala843ProfsTer16
XM_011511687.1:c.2527del	XP_011509989.1:p.Ala843ProfsTer16
XM_011511688.1:c.1586+3304del	XP_011509990.1:n.1586+3304del
NM_001204.7:c.2527del MANE Select	NP_001195.2:p.Ala843ProfsTer16