Canonical Allele Identifier: CA1041346400

Gene: BMPR2

Linked Data

• dbSNP Id: rs1688007047
• gnomAD v3: 2-202530714-ACTT-A
• gnomAD v4: 2-202530714-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530717_202530719del , CM000664.2:g.202530717_202530719del	GRCh38
NC_000002.11:g.203395440_203395442del , CM000664.1:g.203395440_203395442del	GRCh37
NC_000002.10:g.203103685_203103687del	NCBI36
NG_009363.1:g.159391_159393del , LRG_712:g.159391_159393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.968-77_968-75del MANE Select	ENSP00000363708.4:n.968-77_968-75del
ENST00000638587.1:c.899-77_899-75del	ENSP00000491062.1:n.899-77_899-75del
ENST00000374574.2:c.968-77_968-75del	ENSP00000363702.2:n.968-77_968-75del
ENST00000374580.8:c.968-77_968-75del	ENSP00000363708.4:n.968-77_968-75del
NM_001204.6:c.968-77_968-75del , LRG_712t1:c.968-77_968-75del	NP_001195.2:n.968-77_968-75del
XM_011511687.1:c.968-77_968-75del	XP_011509989.1:n.968-77_968-75del
XM_011511688.1:c.968-77_968-75del	XP_011509990.1:n.968-77_968-75del
NM_001204.7:c.968-77_968-75del MANE Select	NP_001195.2:n.968-77_968-75del