Canonical Allele Identifier: CA2662706199

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202531032-G-GCCACCACACC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202531032_202531033insCCACCACACC , CM000664.2:g.202531032_202531033insCCACCACACC	GRCh38
NC_000002.11:g.203395755_203395756insCCACCACACC , CM000664.1:g.203395755_203395756insCCACCACACC	GRCh37
NC_000002.10:g.203104000_203104001insCCACCACACC	NCBI36
NG_009363.1:g.159706_159707insCCACCACACC , LRG_712:g.159706_159707insCCACCACACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1128+78_1128+79insCCACCACACC MANE Select	ENSP00000363708.4:n.1128+78_1128+79insCCACCACACC
ENST00000638587.1:c.1059+78_1059+79insCCACCACACC	ENSP00000491062.1:n.1059+78_1059+79insCCACCACACC
ENST00000374574.2:c.1128+78_1128+79insCCACCACACC	ENSP00000363702.2:n.1128+78_1128+79insCCACCACACC
ENST00000374580.8:c.1128+78_1128+79insCCACCACACC	ENSP00000363708.4:n.1128+78_1128+79insCCACCACACC
NM_001204.6:c.1128+78_1128+79insCCACCACACC , LRG_712t1:c.1128+78_1128+79insCCACCACACC	NP_001195.2:n.1128+78_1128+79insCCACCACACC
XM_011511687.1:c.1128+78_1128+79insCCACCACACC	XP_011509989.1:n.1128+78_1128+79insCCACCACACC
XM_011511688.1:c.1128+78_1128+79insCCACCACACC	XP_011509990.1:n.1128+78_1128+79insCCACCACACC
NM_001204.7:c.1128+78_1128+79insCCACCACACC MANE Select	NP_001195.2:n.1128+78_1128+79insCCACCACACC