Canonical Allele Identifier: CA1321545869
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202533144_202533145delinsTC , CM000664.2:g.202533144_202533145delinsTC GRCh38
NC_000002.11:g.203397867_203397868delinsTC , CM000664.1:g.203397867_203397868delinsTC GRCh37
NC_000002.10:g.203106112_203106113delinsTC NCBI36
NG_009363.1:g.161818_161819delinsTC , LRG_712:g.161818_161819delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1276+412_1276+413delinsTC MANE Select ENSP00000363708.4:n.1276+412_1276+413delinsTC
ENST00000638587.1:c.1207+412_1207+413delinsTC ENSP00000491062.1:n.1207+412_1207+413delinsTC
ENST00000374574.2:c.1276+412_1276+413delinsTC ENSP00000363702.2:n.1276+412_1276+413delinsTC
ENST00000374580.8:c.1276+412_1276+413delinsTC ENSP00000363708.4:n.1276+412_1276+413delinsTC
NM_001204.6:c.1276+412_1276+413delinsTC , LRG_712t1:c.1276+412_1276+413delinsTC NP_001195.2:n.1276+412_1276+413delinsTC
XM_011511687.1:c.1276+412_1276+413delinsTC XP_011509989.1:n.1276+412_1276+413delinsTC
XM_011511688.1:c.1276+412_1276+413delinsTC XP_011509990.1:n.1276+412_1276+413delinsTC
NM_001204.7:c.1276+412_1276+413delinsTC MANE Select NP_001195.2:n.1276+412_1276+413delinsTC