Canonical Allele Identifier: CA915941669
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812849
ClinVar RCV Id: RCV001003744
dbSNP Id: rs1574507331
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556273_202556277del , CM000664.2:g.202556273_202556277del GRCh38
NC_000002.11:g.203420996_203421000del , CM000664.1:g.203420996_203421000del GRCh37
NC_000002.10:g.203129241_203129245del NCBI36
NG_009363.1:g.184947_184951del , LRG_712:g.184947_184951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2608_2612del MANE Select ENSP00000363708.4:p.Leu870GlufsTer9
ENST00000638587.1:c.2539_2543del ENSP00000491062.1:n.2539_2543del
ENST00000374574.2:c.1586+3385_1586+3389del ENSP00000363702.2:n.1586+3385_1586+3389del
ENST00000374580.8:c.2608_2612del ENSP00000363708.4:p.Leu870GlufsTer9
NM_001204.6:c.2608_2612del , LRG_712t1:c.2608_2612del NP_001195.2:p.Leu870GlufsTer9
XM_011511687.1:c.2608_2612del XP_011509989.1:p.Leu870GlufsTer9
XM_011511688.1:c.1586+3385_1586+3389del XP_011509990.1:n.1586+3385_1586+3389del
NM_001204.7:c.2608_2612del MANE Select NP_001195.2:p.Leu870GlufsTer9
Search 100 bp 5'
Search 100 bp 3'