Canonical Allele Identifier: CA2662704388

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202467676-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467680_202467682del , CM000664.2:g.202467680_202467682del	GRCh38
NC_000002.11:g.203332403_203332405del , CM000664.1:g.203332403_203332405del	GRCh37
NC_000002.10:g.203040648_203040650del	NCBI36
NG_009363.1:g.96354_96356del , LRG_712:g.96354_96356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.409_411del MANE Select	ENSP00000363708.4:p.Thr137del
ENST00000638587.1:c.340_342del	ENSP00000491062.1:p.Thr114del
ENST00000374574.2:c.409_411del	ENSP00000363702.2:p.Thr137del
ENST00000374580.8:c.409_411del	ENSP00000363708.4:p.Thr137del
ENST00000479069.1:n.316_318del
NM_001204.6:c.409_411del , LRG_712t1:c.409_411del	NP_001195.2:p.Thr137del
XM_011511687.1:c.409_411del	XP_011509989.1:p.Thr137del
XM_011511688.1:c.409_411del	XP_011509990.1:p.Thr137del
NM_001204.7:c.409_411del MANE Select	NP_001195.2:p.Thr137del