Canonical Allele Identifier: CA2662706538

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202552583-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552586_202552587del , CM000664.2:g.202552586_202552587del	GRCh38
NC_000002.11:g.203417309_203417310del , CM000664.1:g.203417309_203417310del	GRCh37
NC_000002.10:g.203125554_203125555del	NCBI36
NG_009363.1:g.181260_181261del , LRG_712:g.181260_181261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1414-130_1414-129del MANE Select	ENSP00000363708.4:n.1414-130_1414-129del
ENST00000638587.1:c.1345-130_1345-129del	ENSP00000491062.1:n.1345-130_1345-129del
ENST00000374574.2:c.1414-130_1414-129del	ENSP00000363702.2:n.1414-130_1414-129del
ENST00000374580.8:c.1414-130_1414-129del	ENSP00000363708.4:n.1414-130_1414-129del
NM_001204.6:c.1414-130_1414-129del , LRG_712t1:c.1414-130_1414-129del	NP_001195.2:n.1414-130_1414-129del
XM_011511687.1:c.1414-130_1414-129del	XP_011509989.1:n.1414-130_1414-129del
XM_011511688.1:c.1414-130_1414-129del	XP_011509990.1:n.1414-130_1414-129del
NM_001204.7:c.1414-130_1414-129del MANE Select	NP_001195.2:n.1414-130_1414-129del