Canonical Allele Identifier: CA1321539724
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518989_202518990delinsAG , CM000664.2:g.202518989_202518990delinsAG GRCh38
NC_000002.11:g.203383712_203383713delinsAG , CM000664.1:g.203383712_203383713delinsAG GRCh37
NC_000002.10:g.203091957_203091958delinsAG NCBI36
NG_009363.1:g.147663_147664delinsAG , LRG_712:g.147663_147664delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.789_790delinsAG MANE Select ENSP00000363708.4:p.Gly263=
ENST00000638587.1:c.720_721delinsAG ENSP00000491062.1:p.Gly240=
ENST00000374574.2:c.789_790delinsAG ENSP00000363702.2:p.Gly263=
ENST00000374580.8:c.789_790delinsAG ENSP00000363708.4:p.Gly263=
NM_001204.6:c.789_790delinsAG , LRG_712t1:c.789_790delinsAG NP_001195.2:p.Gly263=
XM_011511687.1:c.789_790delinsAG XP_011509989.1:p.Gly263=
XM_011511688.1:c.789_790delinsAG XP_011509990.1:p.Gly263=
NM_001204.7:c.789_790delinsAG MANE Select NP_001195.2:p.Gly263=