Canonical Allele Identifier: CA2586971097
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532578_202532579delinsA , CM000664.2:g.202532578_202532579delinsA GRCh38
NC_000002.11:g.203397301_203397302delinsA , CM000664.1:g.203397301_203397302delinsA GRCh37
NC_000002.10:g.203105546_203105547delinsA NCBI36
NG_009363.1:g.161252_161253delinsA , LRG_712:g.161252_161253delinsA

Transcript Alleles

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