Canonical Allele Identifier: CA2573051835
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330492
ClinVar RCV Id: RCV001810821
dbSNP Id: rs2105962382
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467640del , CM000664.2:g.202467640del GRCh38
NC_000002.11:g.203332363del , CM000664.1:g.203332363del GRCh37
NC_000002.10:g.203040608del NCBI36
NG_009363.1:g.96314del , LRG_712:g.96314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.369del MANE Select ENSP00000363708.4:p.Cys123Ter
ENST00000638587.1:c.300del ENSP00000491062.1:p.Cys100Ter
ENST00000374574.2:c.369del ENSP00000363702.2:p.Cys123Ter
ENST00000374580.8:c.369del ENSP00000363708.4:p.Cys123Ter
ENST00000479069.1:n.276del
NM_001204.6:c.369del , LRG_712t1:c.369del NP_001195.2:p.Cys123Ter
XM_011511687.1:c.369del XP_011509989.1:p.Cys123Ter
XM_011511688.1:c.369del XP_011509990.1:p.Cys123Ter
NM_001204.7:c.369del MANE Select NP_001195.2:p.Cys123Ter
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