Canonical Allele Identifier: CA645293825
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425900
ClinVar RCV Id: RCV000488636 RCV001003715
dbSNP Id: rs1553509997
MyVariant Identifiers: chr2:g.203397424_203397425dup (hg19) chr2:g.203397425_203397426insGA (hg19) chr2:g.202532701_202532702dup (hg38) chr2:g.202532702_202532703insGA (hg38)
PubMed: PMID:11015450 PMID:16429395 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532701_202532702dup , CM000664.2:g.202532701_202532702dup GRCh38
NC_000002.11:g.203397424_203397425dup , CM000664.1:g.203397424_203397425dup GRCh37
NC_000002.10:g.203105669_203105670dup NCBI36
NG_009363.1:g.161375_161376dup , LRG_712:g.161375_161376dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1245_1246dup MANE Select ENSP00000363708.4:p.Ile416ArgfsTer4
ENST00000638587.1:c.1176_1177dup ENSP00000491062.1:p.Ile393ArgfsTer4
ENST00000374574.2:c.1245_1246dup ENSP00000363702.2:p.Ile416ArgfsTer4
ENST00000374580.8:c.1245_1246dup ENSP00000363708.4:p.Ile416ArgfsTer4
NM_001204.6:c.1245_1246dup , LRG_712t1:c.1245_1246dup NP_001195.2:p.Ile416ArgfsTer4
XM_011511687.1:c.1245_1246dup XP_011509989.1:p.Ile416ArgfsTer4
XM_011511688.1:c.1245_1246dup XP_011509990.1:p.Ile416ArgfsTer4
NM_001204.7:c.1245_1246dup MANE Select NP_001195.2:p.Ile416ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'