Canonical Allele Identifier: CA1321540056

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202519758_202519771delinsTATAATTTGTATTC , CM000664.2:g.202519758_202519771delinsTATAATTTGTATTC	GRCh38
NC_000002.11:g.203384481_203384494delinsTATAATTTGTATTC , CM000664.1:g.203384481_203384494delinsTATAATTTGTATTC	GRCh37
NC_000002.10:g.203092726_203092739delinsTATAATTTGTATTC	NCBI36
NG_009363.1:g.148432_148445delinsTATAATTTGTATTC , LRG_712:g.148432_148445delinsTATAATTTGTATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-329_853-316delinsTATAATTTGTATTC MANE Select	ENSP00000363708.4:n.853-329_853-316delinsTATAATTTGTATTC
ENST00000638587.1:c.784-329_784-316delinsTATAATTTGTATTC	ENSP00000491062.1:n.784-329_784-316delinsTATAATTTGTATTC
ENST00000374574.2:c.853-329_853-316delinsTATAATTTGTATTC	ENSP00000363702.2:n.853-329_853-316delinsTATAATTTGTATTC
ENST00000374580.8:c.853-329_853-316delinsTATAATTTGTATTC	ENSP00000363708.4:n.853-329_853-316delinsTATAATTTGTATTC
NM_001204.6:c.853-329_853-316delinsTATAATTTGTATTC , LRG_712t1:c.853-329_853-316delinsTATAATTTGTATTC	NP_001195.2:n.853-329_853-316delinsTATAATTTGTATTC
XM_011511687.1:c.853-329_853-316delinsTATAATTTGTATTC	XP_011509989.1:n.853-329_853-316delinsTATAATTTGTATTC
XM_011511688.1:c.853-329_853-316delinsTATAATTTGTATTC	XP_011509990.1:n.853-329_853-316delinsTATAATTTGTATTC
NM_001204.7:c.853-329_853-316delinsTATAATTTGTATTC MANE Select	NP_001195.2:n.853-329_853-316delinsTATAATTTGTATTC