Canonical Allele Identifier: CA1321544892
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530804_202530805delinsAC , CM000664.2:g.202530804_202530805delinsAC GRCh38
NC_000002.11:g.203395527_203395528delinsAC , CM000664.1:g.203395527_203395528delinsAC GRCh37
NC_000002.10:g.203103772_203103773delinsAC NCBI36
NG_009363.1:g.159478_159479delinsAC , LRG_712:g.159478_159479delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.978_979delinsAC MANE Select ENSP00000363708.4:p.Lys326=
ENST00000638587.1:c.909_910delinsAC ENSP00000491062.1:p.Lys303=
ENST00000374574.2:c.978_979delinsAC ENSP00000363702.2:p.Lys326=
ENST00000374580.8:c.978_979delinsAC ENSP00000363708.4:p.Lys326=
NM_001204.6:c.978_979delinsAC , LRG_712t1:c.978_979delinsAC NP_001195.2:p.Lys326=
XM_011511687.1:c.978_979delinsAC XP_011509989.1:p.Lys326=
XM_011511688.1:c.978_979delinsAC XP_011509990.1:p.Lys326=
NM_001204.7:c.978_979delinsAC MANE Select NP_001195.2:p.Lys326=
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