Canonical Allele Identifier: CA1321556357
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552700_202552703delinsGTAC , CM000664.2:g.202552700_202552703delinsGTAC GRCh38
NC_000002.11:g.203417423_203417426delinsGTAC , CM000664.1:g.203417423_203417426delinsGTAC GRCh37
NC_000002.10:g.203125668_203125671delinsGTAC NCBI36
NG_009363.1:g.181374_181377delinsGTAC , LRG_712:g.181374_181377delinsGTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1414-16_1414-13delinsGTAC MANE Select ENSP00000363708.4:n.1414-16_1414-13delinsGTAC
ENST00000638587.1:c.1345-16_1345-13delinsGTAC ENSP00000491062.1:n.1345-16_1345-13delinsGTAC
ENST00000374574.2:c.1414-16_1414-13delinsGTAC ENSP00000363702.2:n.1414-16_1414-13delinsGTAC
ENST00000374580.8:c.1414-16_1414-13delinsGTAC ENSP00000363708.4:n.1414-16_1414-13delinsGTAC
NM_001204.6:c.1414-16_1414-13delinsGTAC , LRG_712t1:c.1414-16_1414-13delinsGTAC NP_001195.2:n.1414-16_1414-13delinsGTAC
XM_011511687.1:c.1414-16_1414-13delinsGTAC XP_011509989.1:n.1414-16_1414-13delinsGTAC
XM_011511688.1:c.1414-16_1414-13delinsGTAC XP_011509990.1:n.1414-16_1414-13delinsGTAC
NM_001204.7:c.1414-16_1414-13delinsGTAC MANE Select NP_001195.2:n.1414-16_1414-13delinsGTAC