Canonical Allele Identifier: CA645293980
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426002
ClinVar RCV Id: RCV000488680
dbSNP Id: rs1085307399
MyVariant Identifiers: chr2:g.203421056del (hg19) chr2:g.202556333del (hg38)
PubMed: PMID:23298310 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556333del , CM000664.2:g.202556333del GRCh38
NC_000002.11:g.203421056del , CM000664.1:g.203421056del GRCh37
NC_000002.10:g.203129301del NCBI36
NG_009363.1:g.185007del , LRG_712:g.185007del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2668del MANE Select ENSP00000363708.4:p.Arg890GlyfsTer6
ENST00000638587.1:c.2599del ENSP00000491062.1:n.2599del
ENST00000374574.2:c.1587-3363del ENSP00000363702.2:n.1587-3363del
ENST00000374580.8:c.2668del ENSP00000363708.4:p.Arg890GlyfsTer6
NM_001204.6:c.2668del , LRG_712t1:c.2668del NP_001195.2:p.Arg890GlyfsTer6
XM_011511687.1:c.2668del XP_011509989.1:p.Arg890GlyfsTer6
XM_011511688.1:c.1587-3363del XP_011509990.1:n.1587-3363del
NM_001204.7:c.2668del MANE Select NP_001195.2:p.Arg890GlyfsTer6
Search 100 bp 5'
Search 100 bp 3'