Canonical Allele Identifier: CA645293810
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425813
ClinVar RCV Id: RCV000488864
dbSNP Id: rs1085307250

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518873_202518879del , CM000664.2:g.202518873_202518879del GRCh38
NC_000002.11:g.203383596_203383602del , CM000664.1:g.203383596_203383602del GRCh37
NC_000002.10:g.203091841_203091847del NCBI36
NG_009363.1:g.147547_147553del , LRG_712:g.147547_147553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.673_679del MANE Select ENSP00000363708.4:p.Arg225LeufsTer3
ENST00000638587.1:c.604_610del ENSP00000491062.1:p.Arg202LeufsTer3
ENST00000374574.2:c.673_679del ENSP00000363702.2:p.Arg225LeufsTer3
ENST00000374580.8:c.673_679del ENSP00000363708.4:p.Arg225LeufsTer3
NM_001204.6:c.673_679del , LRG_712t1:c.673_679del NP_001195.2:p.Arg225LeufsTer3
XM_011511687.1:c.673_679del XP_011509989.1:p.Arg225LeufsTer3
XM_011511688.1:c.673_679del XP_011509990.1:p.Arg225LeufsTer3
NM_001204.7:c.673_679del MANE Select NP_001195.2:p.Arg225LeufsTer3