Canonical Allele Identifier: CA1321537343
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513827_202513828delinsCA , CM000664.2:g.202513827_202513828delinsCA GRCh38
NC_000002.11:g.203378550_203378551delinsCA , CM000664.1:g.203378550_203378551delinsCA GRCh37
NC_000002.10:g.203086795_203086796delinsCA NCBI36
NG_009363.1:g.142501_142502delinsCA , LRG_712:g.142501_142502delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.527_528delinsCA MANE Select ENSP00000363708.4:p.Thr176=
ENST00000638587.1:c.458_459delinsCA ENSP00000491062.1:p.Thr153=
ENST00000374574.2:c.527_528delinsCA ENSP00000363702.2:p.Thr176=
ENST00000374580.8:c.527_528delinsCA ENSP00000363708.4:p.Thr176=
NM_001204.6:c.527_528delinsCA , LRG_712t1:c.527_528delinsCA NP_001195.2:p.Thr176=
XM_011511687.1:c.527_528delinsCA XP_011509989.1:p.Thr176=
XM_011511688.1:c.527_528delinsCA XP_011509990.1:p.Thr176=
NM_001204.7:c.527_528delinsCA MANE Select NP_001195.2:p.Thr176=