Canonical Allele Identifier: CA2697551487
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2698411
ClinVar RCV Id: RCV003596306
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556037_202556056del , CM000664.2:g.202556037_202556056del GRCh38
NC_000002.11:g.203420760_203420779del , CM000664.1:g.203420760_203420779del GRCh37
NC_000002.10:g.203129005_203129024del NCBI36
NG_009363.1:g.184711_184730del , LRG_712:g.184711_184730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2372_2391del MANE Select ENSP00000363708.4:p.Met791ArgfsTer15
ENST00000638587.1:c.2303_2322del ENSP00000491062.1:n.2303_2322del
ENST00000374574.2:c.1586+3149_1586+3168del ENSP00000363702.2:n.1586+3149_1586+3168del
ENST00000374580.8:c.2372_2391del ENSP00000363708.4:p.Met791ArgfsTer15
NM_001204.6:c.2372_2391del , LRG_712t1:c.2372_2391del NP_001195.2:p.Met791ArgfsTer15
XM_011511687.1:c.2372_2391del XP_011509989.1:p.Met791ArgfsTer15
XM_011511688.1:c.1586+3149_1586+3168del XP_011509990.1:n.1586+3149_1586+3168del
NM_001204.7:c.2372_2391del MANE Select NP_001195.2:p.Met791ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'