Canonical Allele Identifier: CA916082272
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 845712
ClinVar RCV Id: RCV001048830 RCV001823934
dbSNP Id: rs1688559190
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555867del , CM000664.2:g.202555867del GRCh38
NC_000002.11:g.203420590del , CM000664.1:g.203420590del GRCh37
NC_000002.10:g.203128835del NCBI36
NG_009363.1:g.184541del , LRG_712:g.184541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2202del MANE Select ENSP00000363708.4:p.Pro735LeufsTer26
ENST00000638587.1:c.2133del ENSP00000491062.1:n.2133del
ENST00000374574.2:c.1586+2979del ENSP00000363702.2:n.1586+2979del
ENST00000374580.8:c.2202del ENSP00000363708.4:p.Pro735LeufsTer26
NM_001204.6:c.2202del , LRG_712t1:c.2202del NP_001195.2:p.Pro735LeufsTer26
XM_011511687.1:c.2202del XP_011509989.1:p.Pro735LeufsTer26
XM_011511688.1:c.1586+2979del XP_011509990.1:n.1586+2979del
NM_001204.7:c.2202del MANE Select NP_001195.2:p.Pro735LeufsTer26
Search 100 bp 5'
Search 100 bp 3'