Canonical Allele Identifier: CA645293829
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425903
ClinVar RCV Id: RCV000488619
dbSNP Id: rs1085307321
MyVariant Identifiers: chr2:g.203397427del (hg19) chr2:g.202532704del (hg38)
PubMed: PMID:11015450 PMID:16429395 PMID:16717148 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532704del , CM000664.2:g.202532704del GRCh38
NC_000002.11:g.203397427del , CM000664.1:g.203397427del GRCh37
NC_000002.10:g.203105672del NCBI36
NG_009363.1:g.161378del , LRG_712:g.161378del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1248del MANE Select ENSP00000363708.4:p.Phe417LeufsTer2
ENST00000638587.1:c.1179del ENSP00000491062.1:p.Phe394LeufsTer2
ENST00000374574.2:c.1248del ENSP00000363702.2:p.Phe417LeufsTer2
ENST00000374580.8:c.1248del ENSP00000363708.4:p.Phe417LeufsTer2
NM_001204.6:c.1248del , LRG_712t1:c.1248del NP_001195.2:p.Phe417LeufsTer2
XM_011511687.1:c.1248del XP_011509989.1:p.Phe417LeufsTer2
XM_011511688.1:c.1248del XP_011509990.1:p.Phe417LeufsTer2
NM_001204.7:c.1248del MANE Select NP_001195.2:p.Phe417LeufsTer2
Search 100 bp 5'
Search 100 bp 3'