Canonical Allele Identifier: CA1321545613
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532520_202532521delinsTC , CM000664.2:g.202532520_202532521delinsTC GRCh38
NC_000002.11:g.203397243_203397244delinsTC , CM000664.1:g.203397243_203397244delinsTC GRCh37
NC_000002.10:g.203105488_203105489delinsTC NCBI36
NG_009363.1:g.161194_161195delinsTC , LRG_712:g.161194_161195delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1129-65_1129-64delinsTC MANE Select ENSP00000363708.4:n.1129-65_1129-64delinsTC
ENST00000638587.1:c.1060-65_1060-64delinsTC ENSP00000491062.1:n.1060-65_1060-64delinsTC
ENST00000374574.2:c.1129-65_1129-64delinsTC ENSP00000363702.2:n.1129-65_1129-64delinsTC
ENST00000374580.8:c.1129-65_1129-64delinsTC ENSP00000363708.4:n.1129-65_1129-64delinsTC
NM_001204.6:c.1129-65_1129-64delinsTC , LRG_712t1:c.1129-65_1129-64delinsTC NP_001195.2:n.1129-65_1129-64delinsTC
XM_011511687.1:c.1129-65_1129-64delinsTC XP_011509989.1:n.1129-65_1129-64delinsTC
XM_011511688.1:c.1129-65_1129-64delinsTC XP_011509990.1:n.1129-65_1129-64delinsTC
NM_001204.7:c.1129-65_1129-64delinsTC MANE Select NP_001195.2:n.1129-65_1129-64delinsTC