Canonical Allele Identifier: CA1321556325
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552668_202552670delinsATT , CM000664.2:g.202552668_202552670delinsATT GRCh38
NC_000002.11:g.203417391_203417393delinsATT , CM000664.1:g.203417391_203417393delinsATT GRCh37
NC_000002.10:g.203125636_203125638delinsATT NCBI36
NG_009363.1:g.181342_181344delinsATT , LRG_712:g.181342_181344delinsATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1414-48_1414-46delinsATT MANE Select ENSP00000363708.4:n.1414-48_1414-46delinsATT
ENST00000638587.1:c.1345-48_1345-46delinsATT ENSP00000491062.1:n.1345-48_1345-46delinsATT
ENST00000374574.2:c.1414-48_1414-46delinsATT ENSP00000363702.2:n.1414-48_1414-46delinsATT
ENST00000374580.8:c.1414-48_1414-46delinsATT ENSP00000363708.4:n.1414-48_1414-46delinsATT
NM_001204.6:c.1414-48_1414-46delinsATT , LRG_712t1:c.1414-48_1414-46delinsATT NP_001195.2:n.1414-48_1414-46delinsATT
XM_011511687.1:c.1414-48_1414-46delinsATT XP_011509989.1:n.1414-48_1414-46delinsATT
XM_011511688.1:c.1414-48_1414-46delinsATT XP_011509990.1:n.1414-48_1414-46delinsATT
NM_001204.7:c.1414-48_1414-46delinsATT MANE Select NP_001195.2:n.1414-48_1414-46delinsATT