Canonical Allele Identifier: CA1321474881

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377853_202377856delinsAAAT , CM000664.2:g.202377853_202377856delinsAAAT	GRCh38
NC_000002.11:g.203242576_203242579delinsAAAT , CM000664.1:g.203242576_203242579delinsAAAT	GRCh37
NC_000002.10:g.202950821_202950824delinsAAAT	NCBI36
NG_009363.1:g.6527_6530delinsAAAT , LRG_712:g.6527_6530delinsAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+303_76+306delinsAAAT MANE Select	ENSP00000363708.4:n.76+303_76+306delinsAAAT
ENST00000374574.2:c.76+303_76+306delinsAAAT	ENSP00000363702.2:n.76+303_76+306delinsAAAT
ENST00000374580.8:c.76+303_76+306delinsAAAT	ENSP00000363708.4:n.76+303_76+306delinsAAAT
NM_001204.6:c.76+303_76+306delinsAAAT , LRG_712t1:c.76+303_76+306delinsAAAT	NP_001195.2:n.76+303_76+306delinsAAAT
XM_011511687.1:c.76+303_76+306delinsAAAT	XP_011509989.1:n.76+303_76+306delinsAAAT
XM_011511688.1:c.76+303_76+306delinsAAAT	XP_011509990.1:n.76+303_76+306delinsAAAT
NM_001204.7:c.76+303_76+306delinsAAAT MANE Select	NP_001195.2:n.76+303_76+306delinsAAAT