Canonical Allele Identifier: CA645293978
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425873
ClinVar RCV Id: RCV000488754
dbSNP Id: rs1085307298
MyVariant Identifiers: chr2:g.203395662dup (hg19) chr2:g.202530939dup (hg38)
PubMed: PMID:16429395 PMID:16717148 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530939dup , CM000664.2:g.202530939dup GRCh38
NC_000002.11:g.203395662dup , CM000664.1:g.203395662dup GRCh37
NC_000002.10:g.203103907dup NCBI36
NG_009363.1:g.159613dup , LRG_712:g.159613dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1113dup MANE Select ENSP00000363708.4:p.Ala372CysfsTer27
ENST00000638587.1:c.1044dup ENSP00000491062.1:p.Ala349CysfsTer27
ENST00000374574.2:c.1113dup ENSP00000363702.2:p.Ala372CysfsTer27
ENST00000374580.8:c.1113dup ENSP00000363708.4:p.Ala372CysfsTer27
NM_001204.6:c.1113dup , LRG_712t1:c.1113dup NP_001195.2:p.Ala372CysfsTer27
XM_011511687.1:c.1113dup XP_011509989.1:p.Ala372CysfsTer27
XM_011511688.1:c.1113dup XP_011509990.1:p.Ala372CysfsTer27
NM_001204.7:c.1113dup MANE Select NP_001195.2:p.Ala372CysfsTer27
Search 100 bp 5'
Search 100 bp 3'