Canonical Allele Identifier: CA10613572

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 333634
• ClinVar RCV Id: RCV000352329 ; RCV001558624 ; RCV002487481 ; RCV004549756 ; RCV001523054
• 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)

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