Canonical Allele Identifier: CA350347734

Gene: BMPR2

Linked Data

• dbSNP Id: rs1463739478
• gnomAD v2: 2-203420588-A-G
• gnomAD v4: 2-202555865-A-G
• MyVariant Identifiers: chr2:g.203420588A>G (hg19) ; chr2:g.202555865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555865A>G , CM000664.2:g.202555865A>G	GRCh38
NC_000002.11:g.203420588A>G , CM000664.1:g.203420588A>G	GRCh37
NC_000002.10:g.203128833A>G	NCBI36
NG_009363.1:g.184539A>G , LRG_712:g.184539A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.2200A>G MANE Select	ENSP00000363708.4:p.Ile734Val
ENST00000638587.1:c.2131A>G	ENSP00000491062.1:n.2131A>G
ENST00000374574.2:c.1586+2977A>G	ENSP00000363702.2:n.1586+2977A>G
ENST00000374580.8:c.2200A>G	ENSP00000363708.4:p.Ile734Val
NM_001204.6:c.2200A>G , LRG_712t1:c.2200A>G	NP_001195.2:p.Ile734Val
XM_011511687.1:c.2200A>G	XP_011509989.1:p.Ile734Val
XM_011511688.1:c.1586+2977A>G	XP_011509990.1:n.1586+2977A>G
NM_001204.7:c.2200A>G MANE Select	NP_001195.2:p.Ile734Val