Canonical Allele Identifier: CA645293970
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425859
ClinVar RCV Id: RCV000488750
dbSNP Id: rs1085307284
MyVariant Identifiers: chr2:g.203395529del (hg19) chr2:g.202530806del (hg38)
PubMed: PMID:16429395 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530806del , CM000664.2:g.202530806del GRCh38
NC_000002.11:g.203395529del , CM000664.1:g.203395529del GRCh37
NC_000002.10:g.203103774del NCBI36
NG_009363.1:g.159480del , LRG_712:g.159480del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.980del MANE Select ENSP00000363708.4:p.Pro327LeufsTer8
ENST00000638587.1:c.911del ENSP00000491062.1:p.Pro304LeufsTer8
ENST00000374574.2:c.980del ENSP00000363702.2:p.Pro327LeufsTer8
ENST00000374580.8:c.980del ENSP00000363708.4:p.Pro327LeufsTer8
NM_001204.6:c.980del , LRG_712t1:c.980del NP_001195.2:p.Pro327LeufsTer8
XM_011511687.1:c.980del XP_011509989.1:p.Pro327LeufsTer8
XM_011511688.1:c.980del XP_011509990.1:p.Pro327LeufsTer8
NM_001204.7:c.980del MANE Select NP_001195.2:p.Pro327LeufsTer8
Search 100 bp 5'
Search 100 bp 3'