Canonical Allele Identifier: CA1321559909
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556243_202556244delinsAT , CM000664.2:g.202556243_202556244delinsAT GRCh38
NC_000002.11:g.203420966_203420967delinsAT , CM000664.1:g.203420966_203420967delinsAT GRCh37
NC_000002.10:g.203129211_203129212delinsAT NCBI36
NG_009363.1:g.184917_184918delinsAT , LRG_712:g.184917_184918delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2578_2579delinsAT MANE Select ENSP00000363708.4:p.Ile860=
ENST00000638587.1:c.2509_2510delinsAT ENSP00000491062.1:n.2509_2510delinsAT
ENST00000374574.2:c.1586+3355_1586+3356delinsAT ENSP00000363702.2:n.1586+3355_1586+3356delinsAT
ENST00000374580.8:c.2578_2579delinsAT ENSP00000363708.4:p.Ile860=
NM_001204.6:c.2578_2579delinsAT , LRG_712t1:c.2578_2579delinsAT NP_001195.2:p.Ile860=
XM_011511687.1:c.2578_2579delinsAT XP_011509989.1:p.Ile860=
XM_011511688.1:c.1586+3355_1586+3356delinsAT XP_011509990.1:n.1586+3355_1586+3356delinsAT
NM_001204.7:c.2578_2579delinsAT MANE Select NP_001195.2:p.Ile860=
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