Canonical Allele Identifier: CA645293801
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425795
ClinVar RCV Id: RCV000488525
dbSNP Id: rs1085307236

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513798del , CM000664.2:g.202513798del GRCh38
NC_000002.11:g.203378521del , CM000664.1:g.203378521del GRCh37
NC_000002.10:g.203086766del NCBI36
NG_009363.1:g.142472del , LRG_712:g.142472del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.498del MANE Select ENSP00000363708.4:p.Ala167ProfsTer9
ENST00000638587.1:c.429del ENSP00000491062.1:p.Ala144ProfsTer9
ENST00000374574.2:c.498del ENSP00000363702.2:p.Ala167ProfsTer9
ENST00000374580.8:c.498del ENSP00000363708.4:p.Ala167ProfsTer9
NM_001204.6:c.498del , LRG_712t1:c.498del NP_001195.2:p.Ala167ProfsTer9
XM_011511687.1:c.498del XP_011509989.1:p.Ala167ProfsTer9
XM_011511688.1:c.498del XP_011509990.1:p.Ala167ProfsTer9
NM_001204.7:c.498del MANE Select NP_001195.2:p.Ala167ProfsTer9