Canonical Allele Identifier: CA645293964
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425973
ClinVar RCV Id: RCV000488467
dbSNP Id: rs1085307373
MyVariant Identifiers: chr2:g.203420397del (hg19) chr2:g.202555674del (hg38)
PubMed: PMID:23675998 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555674del , CM000664.2:g.202555674del GRCh38
NC_000002.11:g.203420397del , CM000664.1:g.203420397del GRCh37
NC_000002.10:g.203128642del NCBI36
NG_009363.1:g.184348del , LRG_712:g.184348del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2009del MANE Select ENSP00000363708.4:p.Pro670GlnfsTer30
ENST00000638587.1:c.1940del ENSP00000491062.1:n.1940del
ENST00000374574.2:c.1586+2786del ENSP00000363702.2:n.1586+2786del
ENST00000374580.8:c.2009del ENSP00000363708.4:p.Pro670GlnfsTer30
NM_001204.6:c.2009del , LRG_712t1:c.2009del NP_001195.2:p.Pro670GlnfsTer30
XM_011511687.1:c.2009del XP_011509989.1:p.Pro670GlnfsTer30
XM_011511688.1:c.1586+2786del XP_011509990.1:n.1586+2786del
NM_001204.7:c.2009del MANE Select NP_001195.2:p.Pro670GlnfsTer30
Search 100 bp 5'
Search 100 bp 3'