Canonical Allele Identifier: CA538969737

Gene: BMPR2

Linked Data

• dbSNP Id: rs1445067284
• gnomAD v2: 2-203378377-CTG-C
• gnomAD v3: 2-202513654-CTG-C
• gnomAD v4: 2-202513654-CTG-C
• MyVariant Identifiers: chr2:g.203378378_203378379del (hg19) ; chr2:g.202513655_202513656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202513656_202513657del , CM000664.2:g.202513656_202513657del	GRCh38
NC_000002.11:g.203378379_203378380del , CM000664.1:g.203378379_203378380del	GRCh37
NC_000002.10:g.203086624_203086625del	NCBI36
NG_009363.1:g.142330_142331del , LRG_712:g.142330_142331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.419-63_419-62del MANE Select	ENSP00000363708.4:n.419-63_419-62del
ENST00000638587.1:c.350-63_350-62del	ENSP00000491062.1:n.350-63_350-62del
ENST00000374574.2:c.419-63_419-62del	ENSP00000363702.2:n.419-63_419-62del
ENST00000374580.8:c.419-63_419-62del	ENSP00000363708.4:n.419-63_419-62del
NM_001204.6:c.419-63_419-62del , LRG_712t1:c.419-63_419-62del	NP_001195.2:n.419-63_419-62del
XM_011511687.1:c.419-63_419-62del	XP_011509989.1:n.419-63_419-62del
XM_011511688.1:c.419-63_419-62del	XP_011509990.1:n.419-63_419-62del
NM_001204.7:c.419-63_419-62del MANE Select	NP_001195.2:n.419-63_419-62del