Canonical Allele Identifier: CA645293851
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425936
ClinVar RCV Id: RCV000488497
dbSNP Id: rs1085307347
MyVariant Identifiers: chr2:g.203407158del (hg19) chr2:g.202542435del (hg38)
PubMed: PMID:16429395 PMID:18356561 PMID:20534176 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542435del , CM000664.2:g.202542435del GRCh38
NC_000002.11:g.203407158del , CM000664.1:g.203407158del GRCh37
NC_000002.10:g.203115403del NCBI36
NG_009363.1:g.171109del , LRG_712:g.171109del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1401del MANE Select ENSP00000363708.4:p.Glu468LysfsTer6
ENST00000638587.1:c.1332del ENSP00000491062.1:p.Glu445LysfsTer6
ENST00000374574.2:c.1401del ENSP00000363702.2:p.Glu468LysfsTer6
ENST00000374580.8:c.1401del ENSP00000363708.4:p.Glu468LysfsTer6
NM_001204.6:c.1401del , LRG_712t1:c.1401del NP_001195.2:p.Glu468LysfsTer6
XM_011511687.1:c.1401del XP_011509989.1:p.Glu468LysfsTer6
XM_011511688.1:c.1401del XP_011509990.1:p.Glu468LysfsTer6
NM_001204.7:c.1401del MANE Select NP_001195.2:p.Glu468LysfsTer6
Search 100 bp 5'
Search 100 bp 3'