Canonical Allele Identifier: CA915941667
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812845
ClinVar RCV Id: RCV001003740
dbSNP Id: rs1574507268
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556198del , CM000664.2:g.202556198del GRCh38
NC_000002.11:g.203420921del , CM000664.1:g.203420921del GRCh37
NC_000002.10:g.203129166del NCBI36
NG_009363.1:g.184872del , LRG_712:g.184872del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2533del MANE Select ENSP00000363708.4:p.Glu845LysfsTer14
ENST00000638587.1:c.2464del ENSP00000491062.1:n.2464del
ENST00000374574.2:c.1586+3310del ENSP00000363702.2:n.1586+3310del
ENST00000374580.8:c.2533del ENSP00000363708.4:p.Glu845LysfsTer14
NM_001204.6:c.2533del , LRG_712t1:c.2533del NP_001195.2:p.Glu845LysfsTer14
XM_011511687.1:c.2533del XP_011509989.1:p.Glu845LysfsTer14
XM_011511688.1:c.1586+3310del XP_011509990.1:n.1586+3310del
NM_001204.7:c.2533del MANE Select NP_001195.2:p.Glu845LysfsTer14
Search 100 bp 5'
Search 100 bp 3'