Canonical Allele Identifier: CA645293977
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425872
ClinVar RCV Id: RCV000488562
dbSNP Id: rs1085307297
MyVariant Identifiers: chr2:g.203395650_203395654del (hg19) chr2:g.202530927_202530931del (hg38)
PubMed: PMID:10903931 PMID:16429395 PMID:18356561 PMID:19555857 PMID:20534176 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530927_202530931del , CM000664.2:g.202530927_202530931del GRCh38
NC_000002.11:g.203395650_203395654del , CM000664.1:g.203395650_203395654del GRCh37
NC_000002.10:g.203103895_203103899del NCBI36
NG_009363.1:g.159601_159605del , LRG_712:g.159601_159605del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1101_1105del MANE Select ENSP00000363708.4:p.Glu368ArgfsTer2
ENST00000638587.1:c.1032_1036del ENSP00000491062.1:p.Glu345ArgfsTer2
ENST00000374574.2:c.1101_1105del ENSP00000363702.2:p.Glu368ArgfsTer2
ENST00000374580.8:c.1101_1105del ENSP00000363708.4:p.Glu368ArgfsTer2
NM_001204.6:c.1101_1105del , LRG_712t1:c.1101_1105del NP_001195.2:p.Glu368ArgfsTer2
XM_011511687.1:c.1101_1105del XP_011509989.1:p.Glu368ArgfsTer2
XM_011511688.1:c.1101_1105del XP_011509990.1:p.Glu368ArgfsTer2
NM_001204.7:c.1101_1105del MANE Select NP_001195.2:p.Glu368ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'