Canonical Allele Identifier: CA645293947
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425982
ClinVar RCV Id: RCV000488508
dbSNP Id: rs1085307381
MyVariant Identifiers: chr2:g.203420774del (hg19) chr2:g.202556051del (hg38)
PubMed: PMID:11015450 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556051del , CM000664.2:g.202556051del GRCh38
NC_000002.11:g.203420774del , CM000664.1:g.203420774del GRCh37
NC_000002.10:g.203129019del NCBI36
NG_009363.1:g.184725del , LRG_712:g.184725del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2386del MANE Select ENSP00000363708.4:p.Ala796GlnfsTer7
ENST00000638587.1:c.2317del ENSP00000491062.1:n.2317del
ENST00000374574.2:c.1586+3163del ENSP00000363702.2:n.1586+3163del
ENST00000374580.8:c.2386del ENSP00000363708.4:p.Ala796GlnfsTer7
NM_001204.6:c.2386del , LRG_712t1:c.2386del NP_001195.2:p.Ala796GlnfsTer7
XM_011511687.1:c.2386del XP_011509989.1:p.Ala796GlnfsTer7
XM_011511688.1:c.1586+3163del XP_011509990.1:n.1586+3163del
NM_001204.7:c.2386del MANE Select NP_001195.2:p.Ala796GlnfsTer7
Search 100 bp 5'
Search 100 bp 3'