Canonical Allele Identifier: CA2586965556
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530868_202530873del , CM000664.2:g.202530868_202530873del GRCh38
NC_000002.11:g.203395591_203395596del , CM000664.1:g.203395591_203395596del GRCh37
NC_000002.10:g.203103836_203103841del NCBI36
NG_009363.1:g.159542_159547del , LRG_712:g.159542_159547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1042_1047del MANE Select ENSP00000363708.4:p.Val348_Ile349del
ENST00000638587.1:c.973_978del ENSP00000491062.1:p.Val325_Ile326del
ENST00000374574.2:c.1042_1047del ENSP00000363702.2:p.Val348_Ile349del
ENST00000374580.8:c.1042_1047del ENSP00000363708.4:p.Val348_Ile349del
NM_001204.6:c.1042_1047del , LRG_712t1:c.1042_1047del NP_001195.2:p.Val348_Ile349del
XM_011511687.1:c.1042_1047del XP_011509989.1:p.Val348_Ile349del
XM_011511688.1:c.1042_1047del XP_011509990.1:p.Val348_Ile349del
NM_001204.7:c.1042_1047del MANE Select NP_001195.2:p.Val348_Ile349del
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