Canonical Allele Identifier: CA645294016
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425775
ClinVar RCV Id: RCV000488792 RCV001003668
dbSNP Id: rs1085307223
MyVariant Identifiers: chr2:g.203332393del (hg19) chr2:g.202467670del (hg38)
PubMed: PMID:23592887 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467670del , CM000664.2:g.202467670del GRCh38
NC_000002.11:g.203332393del , CM000664.1:g.203332393del GRCh37
NC_000002.10:g.203040638del NCBI36
NG_009363.1:g.96344del , LRG_712:g.96344del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.399del MANE Select ENSP00000363708.4:p.Pro134LeufsTer18
ENST00000638587.1:c.330del ENSP00000491062.1:p.Pro111LeufsTer18
ENST00000374574.2:c.399del ENSP00000363702.2:p.Pro134LeufsTer18
ENST00000374580.8:c.399del ENSP00000363708.4:p.Pro134LeufsTer18
ENST00000479069.1:n.306del
NM_001204.6:c.399del , LRG_712t1:c.399del NP_001195.2:p.Pro134LeufsTer18
XM_011511687.1:c.399del XP_011509989.1:p.Pro134LeufsTer18
XM_011511688.1:c.399del XP_011509990.1:p.Pro134LeufsTer18
NM_001204.7:c.399del MANE Select NP_001195.2:p.Pro134LeufsTer18
Search 100 bp 5'
Search 100 bp 3'