Canonical Allele Identifier: CA2662706467

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202542485-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542485A>G , CM000664.2:g.202542485A>G	GRCh38
NC_000002.11:g.203407208A>G , CM000664.1:g.203407208A>G	GRCh37
NC_000002.10:g.203115453A>G	NCBI36
NG_009363.1:g.171159A>G , LRG_712:g.171159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1413+38A>G MANE Select	ENSP00000363708.4:n.1413+38A>G
ENST00000638587.1:c.1344+38A>G	ENSP00000491062.1:n.1344+38A>G
ENST00000374574.2:c.1413+38A>G	ENSP00000363702.2:n.1413+38A>G
ENST00000374580.8:c.1413+38A>G	ENSP00000363708.4:n.1413+38A>G
NM_001204.6:c.1413+38A>G , LRG_712t1:c.1413+38A>G	NP_001195.2:n.1413+38A>G
XM_011511687.1:c.1413+38A>G	XP_011509989.1:n.1413+38A>G
XM_011511688.1:c.1413+38A>G	XP_011509990.1:n.1413+38A>G
NM_001204.7:c.1413+38A>G MANE Select	NP_001195.2:n.1413+38A>G