Canonical Allele Identifier: CA1041346556

Gene: BMPR2

Linked Data

• dbSNP Id: rs1688571984
• gnomAD v3: 2-202556374-TAAC-T
• gnomAD v4: 2-202556374-TAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556382_202556384del , CM000664.2:g.202556382_202556384del	GRCh38
NC_000002.11:g.203421105_203421107del , CM000664.1:g.203421105_203421107del	GRCh37
NC_000002.10:g.203129350_203129352del	NCBI36
NG_009363.1:g.185056_185058del , LRG_712:g.185056_185058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2717_2719del MANE Select	ENSP00000363708.4:p.Asn906del
ENST00000638587.1:c.2648_2650del	ENSP00000491062.1:n.2648_2650del
ENST00000374574.2:c.1587-3314_1587-3312del	ENSP00000363702.2:n.1587-3314_1587-3312del
ENST00000374580.8:c.2717_2719del	ENSP00000363708.4:p.Asn906del
NM_001204.6:c.2717_2719del , LRG_712t1:c.2717_2719del	NP_001195.2:p.Asn906del
XM_011511687.1:c.2717_2719del	XP_011509989.1:p.Asn906del
XM_011511688.1:c.1587-3314_1587-3312del	XP_011509990.1:n.1587-3314_1587-3312del
NM_001204.7:c.2717_2719del MANE Select	NP_001195.2:p.Asn906del