Canonical Allele Identifier: CA1321539656
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518853_202518854delinsAT , CM000664.2:g.202518853_202518854delinsAT GRCh38
NC_000002.11:g.203383576_203383577delinsAT , CM000664.1:g.203383576_203383577delinsAT GRCh37
NC_000002.10:g.203091821_203091822delinsAT NCBI36
NG_009363.1:g.147527_147528delinsAT , LRG_712:g.147527_147528delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.653_654delinsAT MANE Select ENSP00000363708.4:p.Tyr218=
ENST00000638587.1:c.584_585delinsAT ENSP00000491062.1:p.Tyr195=
ENST00000374574.2:c.653_654delinsAT ENSP00000363702.2:p.Tyr218=
ENST00000374580.8:c.653_654delinsAT ENSP00000363708.4:p.Tyr218=
NM_001204.6:c.653_654delinsAT , LRG_712t1:c.653_654delinsAT NP_001195.2:p.Tyr218=
XM_011511687.1:c.653_654delinsAT XP_011509989.1:p.Tyr218=
XM_011511688.1:c.653_654delinsAT XP_011509990.1:p.Tyr218=
NM_001204.7:c.653_654delinsAT MANE Select NP_001195.2:p.Tyr218=
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