Canonical Allele Identifier: CA351416580
Gene: GAL3ST2 HGNC NCBI

Linked Data

gnomAD v4: 2-241801797-G-A
COSMIC: COSM1165369
MyVariant Identifiers: chr2:g.242741212G>A (hg19) chr2:g.241801797G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801797G>A , CM000664.2:g.241801797G>A GRCh38
NC_000002.11:g.242741212G>A , CM000664.1:g.242741212G>A GRCh37
NC_000002.10:g.242389885G>A NCBI36
NG_046977.1:g.29973G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.136G>A MANE Select ENSP00000192314.6:p.Ala46Thr
ENST00000192314.6:c.136G>A ENSP00000192314.6:p.Ala46Thr
NM_022134.2:c.136G>A NP_071417.2:p.Ala46Thr
NM_022134.3:c.136G>A MANE Select NP_071417.2:p.Ala46Thr
Search 100 bp 5'
Search 100 bp 3'