Canonical Allele Identifier: CA658795895
Gene: TBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523672
ClinVar RCV Id: RCV000627098
dbSNP Id: rs1553510171
MyVariant Identifiers: chr2:g.162273392del (hg19) chr2:g.161416881del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.161416881del , CM000664.2:g.161416881del GRCh38
NC_000002.11:g.162273392del , CM000664.1:g.162273392del GRCh37
NC_000002.10:g.161981638del NCBI36
NG_046904.1:g.5773del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389554.8:c.471del MANE Select ENSP00000374205.3:p.Tyr157Ter
ENST00000389554.7:c.471del ENSP00000374205.3:p.Tyr157Ter
ENST00000463544.1:n.551del
NM_006593.2:c.471del NP_006584.1:p.Tyr157Ter
NM_006593.3:c.471del NP_006584.1:p.Tyr157Ter
NM_006593.4:c.471del MANE Select NP_006584.1:p.Tyr157Ter
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Search 100 bp 3'