Canonical Allele Identifier: CA2586965539
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519048_202519049insATA , CM000664.2:g.202519048_202519049insATA GRCh38
NC_000002.11:g.203383771_203383772insATA , CM000664.1:g.203383771_203383772insATA GRCh37
NC_000002.10:g.203092016_203092017insATA NCBI36
NG_009363.1:g.147722_147723insATA , LRG_712:g.147722_147723insATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.848_849insATA MANE Select ENSP00000363708.4:p.Pro283_Asn284insTyr
ENST00000638587.1:c.779_780insATA ENSP00000491062.1:p.Pro260_Asn261insTyr
ENST00000374574.2:c.848_849insATA ENSP00000363702.2:p.Pro283_Asn284insTyr
ENST00000374580.8:c.848_849insATA ENSP00000363708.4:p.Pro283_Asn284insTyr
NM_001204.6:c.848_849insATA , LRG_712t1:c.848_849insATA NP_001195.2:p.Pro283_Asn284insTyr
XM_011511687.1:c.848_849insATA XP_011509989.1:p.Pro283_Asn284insTyr
XM_011511688.1:c.848_849insATA XP_011509990.1:p.Pro283_Asn284insTyr
NM_001204.7:c.848_849insATA MANE Select NP_001195.2:p.Pro283_Asn284insTyr
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