Canonical Allele Identifier: CA2753905656
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519138_202519139insGCAG , CM000664.2:g.202519138_202519139insGCAG GRCh38
NC_000002.11:g.203383861_203383862insGCAG , CM000664.1:g.203383861_203383862insGCAG GRCh37
NC_000002.10:g.203092106_203092107insGCAG NCBI36
NG_009363.1:g.147812_147813insGCAG , LRG_712:g.147812_147813insGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+86_852+87insGCAG MANE Select ENSP00000363708.4:n.852+86_852+87insGCAG
ENST00000638587.1:c.783+86_783+87insGCAG ENSP00000491062.1:n.783+86_783+87insGCAG
ENST00000374574.2:c.852+86_852+87insGCAG ENSP00000363702.2:n.852+86_852+87insGCAG
ENST00000374580.8:c.852+86_852+87insGCAG ENSP00000363708.4:n.852+86_852+87insGCAG
NM_001204.6:c.852+86_852+87insGCAG , LRG_712t1:c.852+86_852+87insGCAG NP_001195.2:n.852+86_852+87insGCAG
XM_011511687.1:c.852+86_852+87insGCAG XP_011509989.1:n.852+86_852+87insGCAG
XM_011511688.1:c.852+86_852+87insGCAG XP_011509990.1:n.852+86_852+87insGCAG
NM_001204.7:c.852+86_852+87insGCAG MANE Select NP_001195.2:n.852+86_852+87insGCAG
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