Canonical Allele Identifier: CA349211922
Gene: TBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523673
ClinVar RCV Id: RCV000627099
dbSNP Id: rs1553510217
MyVariant Identifiers: chr2:g.162273594A>T (hg19) chr2:g.161417083A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.161417083A>T , CM000664.2:g.161417083A>T GRCh38
NC_000002.11:g.162273594A>T , CM000664.1:g.162273594A>T GRCh37
NC_000002.10:g.161981840A>T NCBI36
NG_046904.1:g.5975A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389554.8:c.673A>T MANE Select ENSP00000374205.3:p.Ile225Phe
ENST00000389554.7:c.673A>T ENSP00000374205.3:p.Ile225Phe
ENST00000463544.1:n.753A>T
NM_006593.2:c.673A>T NP_006584.1:p.Ile225Phe
NM_006593.3:c.673A>T NP_006584.1:p.Ile225Phe
NM_006593.4:c.673A>T MANE Select NP_006584.1:p.Ile225Phe
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