Canonical Allele Identifier: CA2177652
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs749931479
ExAC: 2:234527210 T / C
gnomAD v2: 2-234527210-T-C
gnomAD v4: 2-233618564-T-C
MyVariant Identifiers: chr2:g.234527210T>C (hg19) chr2:g.233618564T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618564T>C , CM000664.2:g.233618564T>C GRCh38
NC_000002.11:g.234527210T>C , CM000664.1:g.234527210T>C GRCh37
NC_000002.10:g.234191949T>C NCBI36
NG_002601.2:g.33821T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.855+2T>C MANE Select ENSP00000362549.4:n.855+2T>C
ENST00000373450.4:c.855+2T>C ENSP00000362549.4:n.855+2T>C
NM_019076.4:c.855+2T>C NP_061949.3:n.855+2T>C
NM_019076.5:c.855+2T>C MANE Select NP_061949.3:n.855+2T>C
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