Canonical Allele Identifier: CA1321539767
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519096_202519098delinsTTA , CM000664.2:g.202519096_202519098delinsTTA GRCh38
NC_000002.11:g.203383819_203383821delinsTTA , CM000664.1:g.203383819_203383821delinsTTA GRCh37
NC_000002.10:g.203092064_203092066delinsTTA NCBI36
NG_009363.1:g.147770_147772delinsTTA , LRG_712:g.147770_147772delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+44_852+46delinsTTA MANE Select ENSP00000363708.4:n.852+44_852+46delinsTTA
ENST00000638587.1:c.783+44_783+46delinsTTA ENSP00000491062.1:n.783+44_783+46delinsTTA
ENST00000374574.2:c.852+44_852+46delinsTTA ENSP00000363702.2:n.852+44_852+46delinsTTA
ENST00000374580.8:c.852+44_852+46delinsTTA ENSP00000363708.4:n.852+44_852+46delinsTTA
NM_001204.6:c.852+44_852+46delinsTTA , LRG_712t1:c.852+44_852+46delinsTTA NP_001195.2:n.852+44_852+46delinsTTA
XM_011511687.1:c.852+44_852+46delinsTTA XP_011509989.1:n.852+44_852+46delinsTTA
XM_011511688.1:c.852+44_852+46delinsTTA XP_011509990.1:n.852+44_852+46delinsTTA
NM_001204.7:c.852+44_852+46delinsTTA MANE Select NP_001195.2:n.852+44_852+46delinsTTA