Canonical Allele Identifier: CA645293942
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425976
ClinVar RCV Id: RCV000488463
dbSNP Id: rs1085307376
MyVariant Identifiers: chr2:g.203420674del (hg19) chr2:g.202555951del (hg38)
PubMed: PMID:22632830 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555951del , CM000664.2:g.202555951del GRCh38
NC_000002.11:g.203420674del , CM000664.1:g.203420674del GRCh37
NC_000002.10:g.203128919del NCBI36
NG_009363.1:g.184625del , LRG_712:g.184625del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2286del MANE Select ENSP00000363708.4:p.Asn764IlefsTer8
ENST00000638587.1:c.2217del ENSP00000491062.1:n.2217del
ENST00000374574.2:c.1586+3063del ENSP00000363702.2:n.1586+3063del
ENST00000374580.8:c.2286del ENSP00000363708.4:p.Asn764IlefsTer8
NM_001204.6:c.2286del , LRG_712t1:c.2286del NP_001195.2:p.Asn764IlefsTer8
XM_011511687.1:c.2286del XP_011509989.1:p.Asn764IlefsTer8
XM_011511688.1:c.1586+3063del XP_011509990.1:n.1586+3063del
NM_001204.7:c.2286del MANE Select NP_001195.2:p.Asn764IlefsTer8
Search 100 bp 5'
Search 100 bp 3'