Canonical Allele Identifier: CA2586971023
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556315_202556325del , CM000664.2:g.202556315_202556325del GRCh38
NC_000002.11:g.203421038_203421048del , CM000664.1:g.203421038_203421048del GRCh37
NC_000002.10:g.203129283_203129293del NCBI36
NG_009363.1:g.184989_184999del , LRG_712:g.184989_184999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2650_2660del MANE Select ENSP00000363708.4:p.Leu884CysfsTer14
ENST00000638587.1:c.2581_2591del ENSP00000491062.1:n.2581_2591del
ENST00000374574.2:c.1587-3381_1587-3371del ENSP00000363702.2:n.1587-3381_1587-3371del
ENST00000374580.8:c.2650_2660del ENSP00000363708.4:p.Leu884CysfsTer14
NM_001204.6:c.2650_2660del , LRG_712t1:c.2650_2660del NP_001195.2:p.Leu884CysfsTer14
XM_011511687.1:c.2650_2660del XP_011509989.1:p.Leu884CysfsTer14
XM_011511688.1:c.1587-3381_1587-3371del XP_011509990.1:n.1587-3381_1587-3371del
NM_001204.7:c.2650_2660del MANE Select NP_001195.2:p.Leu884CysfsTer14
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