Canonical Allele Identifier: CA1321558762
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555435_202555436delinsAC , CM000664.2:g.202555435_202555436delinsAC GRCh38
NC_000002.11:g.203420158_203420159delinsAC , CM000664.1:g.203420158_203420159delinsAC GRCh37
NC_000002.10:g.203128403_203128404delinsAC NCBI36
NG_009363.1:g.184109_184110delinsAC , LRG_712:g.184109_184110delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1770_1771delinsAC MANE Select ENSP00000363708.4:p.Glu590=
ENST00000638587.1:c.1701_1702delinsAC ENSP00000491062.1:n.1701_1702delinsAC
ENST00000374574.2:c.1586+2547_1586+2548delinsAC ENSP00000363702.2:n.1586+2547_1586+2548delinsAC
ENST00000374580.8:c.1770_1771delinsAC ENSP00000363708.4:p.Glu590=
NM_001204.6:c.1770_1771delinsAC , LRG_712t1:c.1770_1771delinsAC NP_001195.2:p.Glu590=
XM_011511687.1:c.1770_1771delinsAC XP_011509989.1:p.Glu590=
XM_011511688.1:c.1586+2547_1586+2548delinsAC XP_011509990.1:n.1586+2547_1586+2548delinsAC
NM_001204.7:c.1770_1771delinsAC MANE Select NP_001195.2:p.Glu590=