Canonical Allele Identifier: CA1321545628
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532554_202532555delinsCT , CM000664.2:g.202532554_202532555delinsCT GRCh38
NC_000002.11:g.203397277_203397278delinsCT , CM000664.1:g.203397277_203397278delinsCT GRCh37
NC_000002.10:g.203105522_203105523delinsCT NCBI36
NG_009363.1:g.161228_161229delinsCT , LRG_712:g.161228_161229delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1129-31_1129-30delinsCT MANE Select ENSP00000363708.4:n.1129-31_1129-30delinsCT
ENST00000638587.1:c.1060-31_1060-30delinsCT ENSP00000491062.1:n.1060-31_1060-30delinsCT
ENST00000374574.2:c.1129-31_1129-30delinsCT ENSP00000363702.2:n.1129-31_1129-30delinsCT
ENST00000374580.8:c.1129-31_1129-30delinsCT ENSP00000363708.4:n.1129-31_1129-30delinsCT
NM_001204.6:c.1129-31_1129-30delinsCT , LRG_712t1:c.1129-31_1129-30delinsCT NP_001195.2:n.1129-31_1129-30delinsCT
XM_011511687.1:c.1129-31_1129-30delinsCT XP_011509989.1:n.1129-31_1129-30delinsCT
XM_011511688.1:c.1129-31_1129-30delinsCT XP_011509990.1:n.1129-31_1129-30delinsCT
NM_001204.7:c.1129-31_1129-30delinsCT MANE Select NP_001195.2:n.1129-31_1129-30delinsCT