Canonical Allele Identifier: CA2560025708
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556149_202556150del , CM000664.2:g.202556149_202556150del GRCh38
NC_000002.11:g.203420872_203420873del , CM000664.1:g.203420872_203420873del GRCh37
NC_000002.10:g.203129117_203129118del NCBI36
NG_009363.1:g.184823_184824del , LRG_712:g.184823_184824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2484_2485del MANE Select ENSP00000363708.4:p.Thr829SerfsTer13
ENST00000638587.1:c.2415_2416del ENSP00000491062.1:n.2415_2416del
ENST00000374574.2:c.1586+3261_1586+3262del ENSP00000363702.2:n.1586+3261_1586+3262del
ENST00000374580.8:c.2484_2485del ENSP00000363708.4:p.Thr829SerfsTer13
NM_001204.6:c.2484_2485del , LRG_712t1:c.2484_2485del NP_001195.2:p.Thr829SerfsTer13
XM_011511687.1:c.2484_2485del XP_011509989.1:p.Thr829SerfsTer13
XM_011511688.1:c.1586+3261_1586+3262del XP_011509990.1:n.1586+3261_1586+3262del
NM_001204.7:c.2484_2485del MANE Select NP_001195.2:p.Thr829SerfsTer13
Search 100 bp 5'
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