Canonical Allele Identifier: CA645293812
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425816
ClinVar RCV Id: RCV000488868 RCV002527012
dbSNP Id: rs1085307253
PubMed: PMID:10903931 PMID:16728714 PMID:18503968 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518890_202518891delinsT , CM000664.2:g.202518890_202518891delinsT GRCh38
NC_000002.11:g.203383613_203383614delinsT , CM000664.1:g.203383613_203383614delinsT GRCh37
NC_000002.10:g.203091858_203091859delinsT NCBI36
NG_009363.1:g.147564_147565delinsT , LRG_712:g.147564_147565delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.690_691delinsT MANE Select ENSP00000363708.4:p.Lys230AsnfsTer22
ENST00000638587.1:c.621_622delinsT ENSP00000491062.1:p.Lys207AsnfsTer22
ENST00000374574.2:c.690_691delinsT ENSP00000363702.2:p.Lys230AsnfsTer22
ENST00000374580.8:c.690_691delinsT ENSP00000363708.4:p.Lys230AsnfsTer22
NM_001204.6:c.690_691delinsT , LRG_712t1:c.690_691delinsT NP_001195.2:p.Lys230AsnfsTer22
XM_011511687.1:c.690_691delinsT XP_011509989.1:p.Lys230AsnfsTer22
XM_011511688.1:c.690_691delinsT XP_011509990.1:p.Lys230AsnfsTer22
NM_001204.7:c.690_691delinsT MANE Select NP_001195.2:p.Lys230AsnfsTer22
Search 100 bp 5'
Search 100 bp 3'