Canonical Allele Identifier: CA2662706375

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202532858-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532860del , CM000664.2:g.202532860del	GRCh38
NC_000002.11:g.203397583del , CM000664.1:g.203397583del	GRCh37
NC_000002.10:g.203105828del	NCBI36
NG_009363.1:g.161534del , LRG_712:g.161534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+128del MANE Select	ENSP00000363708.4:n.1276+128del
ENST00000638587.1:c.1207+128del	ENSP00000491062.1:n.1207+128del
ENST00000374574.2:c.1276+128del	ENSP00000363702.2:n.1276+128del
ENST00000374580.8:c.1276+128del	ENSP00000363708.4:n.1276+128del
NM_001204.6:c.1276+128del , LRG_712t1:c.1276+128del	NP_001195.2:n.1276+128del
XM_011511687.1:c.1276+128del	XP_011509989.1:n.1276+128del
XM_011511688.1:c.1276+128del	XP_011509990.1:n.1276+128del
NM_001204.7:c.1276+128del MANE Select	NP_001195.2:n.1276+128del