Canonical Allele Identifier: CA2222378
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs548109179
ExAC: 2:242741236 A / G
gnomAD v2: 2-242741236-A-G
gnomAD v3: 2-241801821-A-G
gnomAD v4: 2-241801821-A-G
MyVariant Identifiers: chr2:g.242741236A>G (hg19) chr2:g.241801821A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801821A>G , CM000664.2:g.241801821A>G GRCh38
NC_000002.11:g.242741236A>G , CM000664.1:g.242741236A>G GRCh37
NC_000002.10:g.242389909A>G NCBI36
NG_046977.1:g.29997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.160A>G MANE Select ENSP00000192314.6:p.Ile54Val
ENST00000192314.6:c.160A>G ENSP00000192314.6:p.Ile54Val
NM_022134.2:c.160A>G NP_071417.2:p.Ile54Val
NM_022134.3:c.160A>G MANE Select NP_071417.2:p.Ile54Val
Search 100 bp 5'
Search 100 bp 3'