Canonical Allele Identifier: CA1321474690
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377516_202377517delinsAC , CM000664.2:g.202377516_202377517delinsAC GRCh38
NC_000002.11:g.203242239_203242240delinsAC , CM000664.1:g.203242239_203242240delinsAC GRCh37
NC_000002.10:g.202950484_202950485delinsAC NCBI36
NG_009363.1:g.6190_6191delinsAC , LRG_712:g.6190_6191delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.42_43delinsAC MANE Select ENSP00000363708.4:p.Leu14=
ENST00000374574.2:c.42_43delinsAC ENSP00000363702.2:p.Leu14=
ENST00000374580.8:c.42_43delinsAC ENSP00000363708.4:p.Leu14=
NM_001204.6:c.42_43delinsAC , LRG_712t1:c.42_43delinsAC NP_001195.2:p.Leu14=
XM_011511687.1:c.42_43delinsAC XP_011509989.1:p.Leu14=
XM_011511688.1:c.42_43delinsAC XP_011509990.1:p.Leu14=
NM_001204.7:c.42_43delinsAC MANE Select NP_001195.2:p.Leu14=
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