Canonical Allele Identifier: CA1321474671
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377492_202377493delinsGC , CM000664.2:g.202377492_202377493delinsGC GRCh38
NC_000002.11:g.203242215_203242216delinsGC , CM000664.1:g.203242215_203242216delinsGC GRCh37
NC_000002.10:g.202950460_202950461delinsGC NCBI36
NG_009363.1:g.6166_6167delinsGC , LRG_712:g.6166_6167delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.18_19delinsGC MANE Select ENSP00000363708.4:p.Gln6=
ENST00000374574.2:c.18_19delinsGC ENSP00000363702.2:p.Gln6=
ENST00000374580.8:c.18_19delinsGC ENSP00000363708.4:p.Gln6=
NM_001204.6:c.18_19delinsGC , LRG_712t1:c.18_19delinsGC NP_001195.2:p.Gln6=
XM_011511687.1:c.18_19delinsGC XP_011509989.1:p.Gln6=
XM_011511688.1:c.18_19delinsGC XP_011509990.1:p.Gln6=
NM_001204.7:c.18_19delinsGC MANE Select NP_001195.2:p.Gln6=
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