Canonical Allele Identifier: CA1321544931
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530901_202530902delinsAC , CM000664.2:g.202530901_202530902delinsAC GRCh38
NC_000002.11:g.203395624_203395625delinsAC , CM000664.1:g.203395624_203395625delinsAC GRCh37
NC_000002.10:g.203103869_203103870delinsAC NCBI36
NG_009363.1:g.159575_159576delinsAC , LRG_712:g.159575_159576delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1075_1076delinsAC MANE Select ENSP00000363708.4:p.Thr359=
ENST00000638587.1:c.1006_1007delinsAC ENSP00000491062.1:p.Thr336=
ENST00000374574.2:c.1075_1076delinsAC ENSP00000363702.2:p.Thr359=
ENST00000374580.8:c.1075_1076delinsAC ENSP00000363708.4:p.Thr359=
NM_001204.6:c.1075_1076delinsAC , LRG_712t1:c.1075_1076delinsAC NP_001195.2:p.Thr359=
XM_011511687.1:c.1075_1076delinsAC XP_011509989.1:p.Thr359=
XM_011511688.1:c.1075_1076delinsAC XP_011509990.1:p.Thr359=
NM_001204.7:c.1075_1076delinsAC MANE Select NP_001195.2:p.Thr359=