Canonical Allele Identifier: CA1321474669
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377488_202377493delinsTGCAGC , CM000664.2:g.202377488_202377493delinsTGCAGC GRCh38
NC_000002.11:g.203242211_203242216delinsTGCAGC , CM000664.1:g.203242211_203242216delinsTGCAGC GRCh37
NC_000002.10:g.202950456_202950461delinsTGCAGC NCBI36
NG_009363.1:g.6162_6167delinsTGCAGC , LRG_712:g.6162_6167delinsTGCAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.14_19delinsTGCAGC MANE Select ENSP00000363708.4:p.Leu5=
ENST00000374574.2:c.14_19delinsTGCAGC ENSP00000363702.2:p.Leu5=
ENST00000374580.8:c.14_19delinsTGCAGC ENSP00000363708.4:p.Leu5=
NM_001204.6:c.14_19delinsTGCAGC , LRG_712t1:c.14_19delinsTGCAGC NP_001195.2:p.Leu5=
XM_011511687.1:c.14_19delinsTGCAGC XP_011509989.1:p.Leu5=
XM_011511688.1:c.14_19delinsTGCAGC XP_011509990.1:p.Leu5=
NM_001204.7:c.14_19delinsTGCAGC MANE Select NP_001195.2:p.Leu5=
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