Canonical Allele Identifier: CA1321510560
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467583_202467584delinsTC , CM000664.2:g.202467583_202467584delinsTC GRCh38
NC_000002.11:g.203332306_203332307delinsTC , CM000664.1:g.203332306_203332307delinsTC GRCh37
NC_000002.10:g.203040551_203040552delinsTC NCBI36
NG_009363.1:g.96257_96258delinsTC , LRG_712:g.96257_96258delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.312_313delinsTC MANE Select ENSP00000363708.4:p.Thr104=
ENST00000638587.1:c.243_244delinsTC ENSP00000491062.1:p.Thr81=
ENST00000374574.2:c.312_313delinsTC ENSP00000363702.2:p.Thr104=
ENST00000374580.8:c.312_313delinsTC ENSP00000363708.4:p.Thr104=
ENST00000479069.1:n.219_220delinsTC
NM_001204.6:c.312_313delinsTC , LRG_712t1:c.312_313delinsTC NP_001195.2:p.Thr104=
XM_011511687.1:c.312_313delinsTC XP_011509989.1:p.Thr104=
XM_011511688.1:c.312_313delinsTC XP_011509990.1:p.Thr104=
NM_001204.7:c.312_313delinsTC MANE Select NP_001195.2:p.Thr104=