Canonical Allele Identifier: CA2838562531

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202514953_202514955del , CM000664.2:g.202514953_202514955del	GRCh38
NC_000002.11:g.203379676_203379678del , CM000664.1:g.203379676_203379678del	GRCh37
NC_000002.10:g.203087921_203087923del	NCBI36
NG_009363.1:g.143627_143629del , LRG_712:g.143627_143629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.595_597del MANE Select	ENSP00000363708.4:p.Asp199del
ENST00000638587.1:c.526_528del	ENSP00000491062.1:p.Asp176del
ENST00000374574.2:c.595_597del	ENSP00000363702.2:p.Asp199del
ENST00000374580.8:c.595_597del	ENSP00000363708.4:p.Asp199del
NM_001204.6:c.595_597del , LRG_712t1:c.595_597del	NP_001195.2:p.Asp199del
XM_011511687.1:c.595_597del	XP_011509989.1:p.Asp199del
XM_011511688.1:c.595_597del	XP_011509990.1:p.Asp199del
NM_001204.7:c.595_597del MANE Select	NP_001195.2:p.Asp199del