Canonical Allele Identifier: CA350340660
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425831
ClinVar RCV Id: RCV000488698 RCV001823913
dbSNP Id: rs1085307266
MyVariant Identifiers: chr2:g.203383776G>A (hg19) chr2:g.202519053G>A (hg38)
PubMed: PMID:20534176 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519053G>A , CM000664.2:g.202519053G>A GRCh38
NC_000002.11:g.203383776G>A , CM000664.1:g.203383776G>A GRCh37
NC_000002.10:g.203092021G>A NCBI36
NG_009363.1:g.147727G>A , LRG_712:g.147727G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.852+1G>A MANE Select ENSP00000363708.4:n.852+1G>A
ENST00000638587.1:c.783+1G>A ENSP00000491062.1:n.783+1G>A
ENST00000374574.2:c.852+1G>A ENSP00000363702.2:n.852+1G>A
ENST00000374580.8:c.852+1G>A ENSP00000363708.4:n.852+1G>A
NM_001204.6:c.852+1G>A , LRG_712t1:c.852+1G>A NP_001195.2:n.852+1G>A
XM_011511687.1:c.852+1G>A XP_011509989.1:n.852+1G>A
XM_011511688.1:c.852+1G>A XP_011509990.1:n.852+1G>A
NM_001204.7:c.852+1G>A MANE Select NP_001195.2:n.852+1G>A
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