Canonical Allele Identifier: CA432241718
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs1164323332
gnomAD v2: 2-242741132-G-A
gnomAD v3: 2-241801717-G-A
gnomAD v4: 2-241801717-G-A
MyVariant Identifiers: chr2:g.242741132G>A (hg19) chr2:g.241801717G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801717G>A , CM000664.2:g.241801717G>A GRCh38
NC_000002.11:g.242741132G>A , CM000664.1:g.242741132G>A GRCh37
NC_000002.10:g.242389805G>A NCBI36
NG_046977.1:g.29893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.120-64G>A MANE Select ENSP00000192314.6:n.120-64G>A
ENST00000192314.6:c.120-64G>A ENSP00000192314.6:n.120-64G>A
NM_022134.2:c.120-64G>A NP_071417.2:n.120-64G>A
NM_022134.3:c.120-64G>A MANE Select NP_071417.2:n.120-64G>A
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