Canonical Allele Identifier: CA1321545864

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202533135_202533140delinsCTTTTT , CM000664.2:g.202533135_202533140delinsCTTTTT	GRCh38
NC_000002.11:g.203397858_203397863delinsCTTTTT , CM000664.1:g.203397858_203397863delinsCTTTTT	GRCh37
NC_000002.10:g.203106103_203106108delinsCTTTTT	NCBI36
NG_009363.1:g.161809_161814delinsCTTTTT , LRG_712:g.161809_161814delinsCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+403_1276+408delinsCTTTTT MANE Select	ENSP00000363708.4:n.1276+403_1276+408delinsCTTTTT
ENST00000638587.1:c.1207+403_1207+408delinsCTTTTT	ENSP00000491062.1:n.1207+403_1207+408delinsCTTTTT
ENST00000374574.2:c.1276+403_1276+408delinsCTTTTT	ENSP00000363702.2:n.1276+403_1276+408delinsCTTTTT
ENST00000374580.8:c.1276+403_1276+408delinsCTTTTT	ENSP00000363708.4:n.1276+403_1276+408delinsCTTTTT
NM_001204.6:c.1276+403_1276+408delinsCTTTTT , LRG_712t1:c.1276+403_1276+408delinsCTTTTT	NP_001195.2:n.1276+403_1276+408delinsCTTTTT
XM_011511687.1:c.1276+403_1276+408delinsCTTTTT	XP_011509989.1:n.1276+403_1276+408delinsCTTTTT
XM_011511688.1:c.1276+403_1276+408delinsCTTTTT	XP_011509990.1:n.1276+403_1276+408delinsCTTTTT
NM_001204.7:c.1276+403_1276+408delinsCTTTTT MANE Select	NP_001195.2:n.1276+403_1276+408delinsCTTTTT