Canonical Allele Identifier: CA10613572
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 333634
ClinVar RCV Id: RCV000352329 RCV001523054 RCV001558624 RCV002487481 RCV003897764
dbSNP Id: rs116154690
gnomAD v2: 2-203241897-G-A
gnomAD v3: 2-202377174-G-A
gnomAD v4: 2-202377174-G-A
MyVariant Identifiers: chr2:g.203241897G>A (hg19) chr2:g.202377174G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377174G>A , CM000664.2:g.202377174G>A GRCh38
NC_000002.11:g.203241897G>A , CM000664.1:g.203241897G>A GRCh37
NC_000002.10:g.202950142G>A NCBI36
NG_009363.1:g.5848G>A , LRG_712:g.5848G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-301G>A MANE Select ENSP00000363708.4:n.-301G>A
ENST00000374580.8:c.-301G>A ENSP00000363708.4:n.-301G>A
NM_001204.6:c.-301G>A , LRG_712t1:c.-301G>A NP_001195.2:n.-301G>A
XM_011511687.1:c.-301G>A XP_011509989.1:n.-301G>A
XM_011511688.1:c.-301G>A XP_011509990.1:n.-301G>A
NM_001204.7:c.-301G>A MANE Select NP_001195.2:n.-301G>A
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