Canonical Allele Identifier: CA645293972
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425866
ClinVar RCV Id: RCV000488530
dbSNP Id: rs1085307291
MyVariant Identifiers: chr2:g.203395593del (hg19) chr2:g.202530870del (hg38)
PubMed: PMID:25612240 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530870del , CM000664.2:g.202530870del GRCh38
NC_000002.11:g.203395593del , CM000664.1:g.203395593del GRCh37
NC_000002.10:g.203103838del NCBI36
NG_009363.1:g.159544del , LRG_712:g.159544del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1044del MANE Select ENSP00000363708.4:p.Ile349LeufsTer8
ENST00000638587.1:c.975del ENSP00000491062.1:p.Ile326LeufsTer8
ENST00000374574.2:c.1044del ENSP00000363702.2:p.Ile349LeufsTer8
ENST00000374580.8:c.1044del ENSP00000363708.4:p.Ile349LeufsTer8
NM_001204.6:c.1044del , LRG_712t1:c.1044del NP_001195.2:p.Ile349LeufsTer8
XM_011511687.1:c.1044del XP_011509989.1:p.Ile349LeufsTer8
XM_011511688.1:c.1044del XP_011509990.1:p.Ile349LeufsTer8
NM_001204.7:c.1044del MANE Select NP_001195.2:p.Ile349LeufsTer8
Search 100 bp 5'
Search 100 bp 3'