Canonical Allele Identifier: CA1321550614
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542374_202542375delinsAG , CM000664.2:g.202542374_202542375delinsAG GRCh38
NC_000002.11:g.203407097_203407098delinsAG , CM000664.1:g.203407097_203407098delinsAG GRCh37
NC_000002.10:g.203115342_203115343delinsAG NCBI36
NG_009363.1:g.171048_171049delinsAG , LRG_712:g.171048_171049delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1340_1341delinsAG MANE Select ENSP00000363708.4:p.Glu447=
ENST00000638587.1:c.1271_1272delinsAG ENSP00000491062.1:p.Glu424=
ENST00000374574.2:c.1340_1341delinsAG ENSP00000363702.2:p.Glu447=
ENST00000374580.8:c.1340_1341delinsAG ENSP00000363708.4:p.Glu447=
NM_001204.6:c.1340_1341delinsAG , LRG_712t1:c.1340_1341delinsAG NP_001195.2:p.Glu447=
XM_011511687.1:c.1340_1341delinsAG XP_011509989.1:p.Glu447=
XM_011511688.1:c.1340_1341delinsAG XP_011509990.1:p.Glu447=
NM_001204.7:c.1340_1341delinsAG MANE Select NP_001195.2:p.Glu447=
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