Canonical Allele Identifier: CA68591101
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs879425652
gnomAD v2: 2-242741278-C-T
gnomAD v4: 2-241801863-C-T
MyVariant Identifiers: chr2:g.242741278C>T (hg19) chr2:g.241801863C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801863C>T , CM000664.2:g.241801863C>T GRCh38
NC_000002.11:g.242741278C>T , CM000664.1:g.242741278C>T GRCh37
NC_000002.10:g.242389951C>T NCBI36
NG_046977.1:g.30039C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.202C>T MANE Select ENSP00000192314.6:p.Leu68Phe
ENST00000192314.6:c.202C>T ENSP00000192314.6:p.Leu68Phe
NM_022134.2:c.202C>T NP_071417.2:p.Leu68Phe
NM_022134.3:c.202C>T MANE Select NP_071417.2:p.Leu68Phe
Search 100 bp 5'
Search 100 bp 3'