Canonical Allele Identifier: CA2753905654
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519126_202519127insAT , CM000664.2:g.202519126_202519127insAT GRCh38
NC_000002.11:g.203383849_203383850insAT , CM000664.1:g.203383849_203383850insAT GRCh37
NC_000002.10:g.203092094_203092095insAT NCBI36
NG_009363.1:g.147800_147801insAT , LRG_712:g.147800_147801insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+74_852+75insAT MANE Select ENSP00000363708.4:n.852+74_852+75insAT
ENST00000638587.1:c.783+74_783+75insAT ENSP00000491062.1:n.783+74_783+75insAT
ENST00000374574.2:c.852+74_852+75insAT ENSP00000363702.2:n.852+74_852+75insAT
ENST00000374580.8:c.852+74_852+75insAT ENSP00000363708.4:n.852+74_852+75insAT
NM_001204.6:c.852+74_852+75insAT , LRG_712t1:c.852+74_852+75insAT NP_001195.2:n.852+74_852+75insAT
XM_011511687.1:c.852+74_852+75insAT XP_011509989.1:n.852+74_852+75insAT
XM_011511688.1:c.852+74_852+75insAT XP_011509990.1:n.852+74_852+75insAT
NM_001204.7:c.852+74_852+75insAT MANE Select NP_001195.2:n.852+74_852+75insAT