Canonical Allele Identifier: CA2580065458
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1802020
ClinVar RCV Id: RCV002464839

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520129del , CM000664.2:g.202520129del GRCh38
NC_000002.11:g.203384852del , CM000664.1:g.203384852del GRCh37
NC_000002.10:g.203093097del NCBI36
NG_009363.1:g.148803del , LRG_712:g.148803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.895del MANE Select ENSP00000363708.4:p.Val299Ter
ENST00000638587.1:c.826del ENSP00000491062.1:p.Val276Ter
ENST00000374574.2:c.895del ENSP00000363702.2:p.Val299Ter
ENST00000374580.8:c.895del ENSP00000363708.4:p.Val299Ter
NM_001204.6:c.895del , LRG_712t1:c.895del NP_001195.2:p.Val299Ter
XM_011511687.1:c.895del XP_011509989.1:p.Val299Ter
XM_011511688.1:c.895del XP_011509990.1:p.Val299Ter
NM_001204.7:c.895del MANE Select NP_001195.2:p.Val299Ter