Canonical Allele Identifier: CA645293844
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425928
ClinVar RCV Id: RCV000488848
dbSNP Id: rs1085307339
PubMed: PMID:20534176 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542400delinsCA , CM000664.2:g.202542400delinsCA GRCh38
NC_000002.11:g.203407123delinsCA , CM000664.1:g.203407123delinsCA GRCh37
NC_000002.10:g.203115368delinsCA NCBI36
NG_009363.1:g.171074delinsCA , LRG_712:g.171074delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1366delinsCA MANE Select ENSP00000363708.4:p.Glu456GlnfsTer15
ENST00000638587.1:c.1297delinsCA ENSP00000491062.1:p.Glu433GlnfsTer15
ENST00000374574.2:c.1366delinsCA ENSP00000363702.2:p.Glu456GlnfsTer15
ENST00000374580.8:c.1366delinsCA ENSP00000363708.4:p.Glu456GlnfsTer15
NM_001204.6:c.1366delinsCA , LRG_712t1:c.1366delinsCA NP_001195.2:p.Glu456GlnfsTer15
XM_011511687.1:c.1366delinsCA XP_011509989.1:p.Glu456GlnfsTer15
XM_011511688.1:c.1366delinsCA XP_011509990.1:p.Glu456GlnfsTer15
NM_001204.7:c.1366delinsCA MANE Select NP_001195.2:p.Glu456GlnfsTer15
Search 100 bp 5'
Search 100 bp 3'