Canonical Allele Identifier: CA645293832
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425910
ClinVar RCV Id: RCV000488856
dbSNP Id: rs1085307328
MyVariant Identifiers: chr2:g.203397453dup (hg19) chr2:g.202532730dup (hg38)
PubMed: PMID:16429395 PMID:18356561 PMID:20534176 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532730dup , CM000664.2:g.202532730dup GRCh38
NC_000002.11:g.203397453dup , CM000664.1:g.203397453dup GRCh37
NC_000002.10:g.203105698dup NCBI36
NG_009363.1:g.161404dup , LRG_712:g.161404dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1274dup MANE Select ENSP00000363708.4:p.Gly426ArgfsTer22
ENST00000638587.1:c.1205dup ENSP00000491062.1:p.Gly403ArgfsTer22
ENST00000374574.2:c.1274dup ENSP00000363702.2:p.Gly426ArgfsTer22
ENST00000374580.8:c.1274dup ENSP00000363708.4:p.Gly426ArgfsTer22
NM_001204.6:c.1274dup , LRG_712t1:c.1274dup NP_001195.2:p.Gly426ArgfsTer22
XM_011511687.1:c.1274dup XP_011509989.1:p.Gly426ArgfsTer22
XM_011511688.1:c.1274dup XP_011509990.1:p.Gly426ArgfsTer22
NM_001204.7:c.1274dup MANE Select NP_001195.2:p.Gly426ArgfsTer22
Search 100 bp 5'
Search 100 bp 3'