Canonical Allele Identifier: CA1041327002

Gene: BMPR2

Linked Data

• dbSNP Id: rs1690147569
• gnomAD v3: 2-202376542-G-GGCA
• gnomAD v4: 2-202376542-G-GGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202376544_202376545insAGC , CM000664.2:g.202376544_202376545insAGC	GRCh38
NC_000002.11:g.203241267_203241268insAGC , CM000664.1:g.203241267_203241268insAGC	GRCh37
NC_000002.10:g.202949512_202949513insAGC	NCBI36
NG_009363.1:g.5218_5219insAGC , LRG_712:g.5218_5219insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.-931_-930insAGC MANE Select	ENSP00000363708.4:n.-931_-930insAGC
NM_001204.6:c.-931_-930insAGC , LRG_712t1:c.-931_-930insAGC	NP_001195.2:n.-931_-930insAGC
XM_011511687.1:c.-931_-930insAGC	XP_011509989.1:n.-931_-930insAGC
XM_011511688.1:c.-931_-930insAGC	XP_011509990.1:n.-931_-930insAGC
NM_001204.7:c.-931_-930insAGC MANE Select	NP_001195.2:n.-931_-930insAGC