Canonical Allele Identifier: CA645293816
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425823
ClinVar RCV Id: RCV000488573
dbSNP Id: rs1085307258

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518990del , CM000664.2:g.202518990del GRCh38
NC_000002.11:g.203383713del , CM000664.1:g.203383713del GRCh37
NC_000002.10:g.203091958del NCBI36
NG_009363.1:g.147664del , LRG_712:g.147664del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.790del MANE Select ENSP00000363708.4:p.Asp264MetfsTer15
ENST00000638587.1:c.721del ENSP00000491062.1:p.Asp241MetfsTer15
ENST00000374574.2:c.790del ENSP00000363702.2:p.Asp264MetfsTer15
ENST00000374580.8:c.790del ENSP00000363708.4:p.Asp264MetfsTer15
NM_001204.6:c.790del , LRG_712t1:c.790del NP_001195.2:p.Asp264MetfsTer15
XM_011511687.1:c.790del XP_011509989.1:p.Asp264MetfsTer15
XM_011511688.1:c.790del XP_011509990.1:p.Asp264MetfsTer15
NM_001204.7:c.790del MANE Select NP_001195.2:p.Asp264MetfsTer15