Canonical Allele Identifier: CA1321545637

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532565_202532566delinsAT , CM000664.2:g.202532565_202532566delinsAT	GRCh38
NC_000002.11:g.203397288_203397289delinsAT , CM000664.1:g.203397288_203397289delinsAT	GRCh37
NC_000002.10:g.203105533_203105534delinsAT	NCBI36
NG_009363.1:g.161239_161240delinsAT , LRG_712:g.161239_161240delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1129-20_1129-19delinsAT MANE Select	ENSP00000363708.4:n.1129-20_1129-19delinsAT
ENST00000638587.1:c.1060-20_1060-19delinsAT	ENSP00000491062.1:n.1060-20_1060-19delinsAT
ENST00000374574.2:c.1129-20_1129-19delinsAT	ENSP00000363702.2:n.1129-20_1129-19delinsAT
ENST00000374580.8:c.1129-20_1129-19delinsAT	ENSP00000363708.4:n.1129-20_1129-19delinsAT
NM_001204.6:c.1129-20_1129-19delinsAT , LRG_712t1:c.1129-20_1129-19delinsAT	NP_001195.2:n.1129-20_1129-19delinsAT
XM_011511687.1:c.1129-20_1129-19delinsAT	XP_011509989.1:n.1129-20_1129-19delinsAT
XM_011511688.1:c.1129-20_1129-19delinsAT	XP_011509990.1:n.1129-20_1129-19delinsAT
NM_001204.7:c.1129-20_1129-19delinsAT MANE Select	NP_001195.2:n.1129-20_1129-19delinsAT