Canonical Allele Identifier: CA64029742

Gene: BMPR2

Linked Data

• dbSNP Id: rs1041097831
• gnomAD v2: 2-203397858-C-CT
• gnomAD v3: 2-202533135-C-CT
• gnomAD v4: 2-202533135-C-CT
• MyVariant Identifiers: chr2:g.203397858_203397859insT (hg19) ; chr2:g.202533135_202533136insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202533144dup , CM000664.2:g.202533144dup	GRCh38
NC_000002.11:g.203397867dup , CM000664.1:g.203397867dup	GRCh37
NC_000002.10:g.203106112dup	NCBI36
NG_009363.1:g.161818dup , LRG_712:g.161818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+412dup MANE Select	ENSP00000363708.4:n.1276+412dup
ENST00000638587.1:c.1207+412dup	ENSP00000491062.1:n.1207+412dup
ENST00000374574.2:c.1276+412dup	ENSP00000363702.2:n.1276+412dup
ENST00000374580.8:c.1276+412dup	ENSP00000363708.4:n.1276+412dup
NM_001204.6:c.1276+412dup , LRG_712t1:c.1276+412dup	NP_001195.2:n.1276+412dup
XM_011511687.1:c.1276+412dup	XP_011509989.1:n.1276+412dup
XM_011511688.1:c.1276+412dup	XP_011509990.1:n.1276+412dup
NM_001204.7:c.1276+412dup MANE Select	NP_001195.2:n.1276+412dup