Canonical Allele Identifier: CA351416714
Gene: GAL3ST2 HGNC NCBI

Linked Data

gnomAD v4: 2-241801863-C-A
MyVariant Identifiers: chr2:g.242741278C>A (hg19) chr2:g.241801863C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.202C>A MANE Select ENSP00000192314.6:p.Leu68Ile
ENST00000192314.6:c.202C>A ENSP00000192314.6:p.Leu68Ile
NM_022134.2:c.202C>A NP_071417.2:p.Leu68Ile
NM_022134.3:c.202C>A MANE Select NP_071417.2:p.Leu68Ile
Search 100 bp 5'
Search 100 bp 3'