Canonical Allele Identifier: CA645293841
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425923
ClinVar RCV Id: RCV000488780
dbSNP Id: rs1085307335
MyVariant Identifiers: chr2:g.203407050_203407057del (hg19) chr2:g.203407042_203407049del (hg19) chr2:g.202542327_202542334del (hg38) chr2:g.202542319_202542326del (hg38)
PubMed: PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542327_202542334del , CM000664.2:g.202542327_202542334del GRCh38
NC_000002.11:g.203407050_203407057del , CM000664.1:g.203407050_203407057del GRCh37
NC_000002.10:g.203115295_203115302del NCBI36
NG_009363.1:g.171001_171008del , LRG_712:g.171001_171008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1293_1300del MANE Select ENSP00000363708.4:p.Glu431AspfsTer14
ENST00000638587.1:c.1224_1231del ENSP00000491062.1:p.Glu408AspfsTer14
ENST00000374574.2:c.1293_1300del ENSP00000363702.2:p.Glu431AspfsTer14
ENST00000374580.8:c.1293_1300del ENSP00000363708.4:p.Glu431AspfsTer14
NM_001204.6:c.1293_1300del , LRG_712t1:c.1293_1300del NP_001195.2:p.Glu431AspfsTer14
XM_011511687.1:c.1293_1300del XP_011509989.1:p.Glu431AspfsTer14
XM_011511688.1:c.1293_1300del XP_011509990.1:p.Glu431AspfsTer14
NM_001204.7:c.1293_1300del MANE Select NP_001195.2:p.Glu431AspfsTer14
Search 100 bp 5'
Search 100 bp 3'