Canonical Allele Identifier: CA432241639
Gene: GAL3ST2 HGNC NCBI

Linked Data

gnomAD v3: 2-241801689-T-C
gnomAD v4: 2-241801689-T-C
MyVariant Identifiers: chr2:g.242741104T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801689T>C , CM000664.2:g.241801689T>C GRCh38
NC_000002.11:g.242741104T>C , CM000664.1:g.242741104T>C GRCh37
NC_000002.10:g.242389777T>C NCBI36
NG_046977.1:g.29865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.120-92T>C MANE Select ENSP00000192314.6:n.120-92T>C
ENST00000192314.6:c.120-92T>C ENSP00000192314.6:n.120-92T>C
NM_022134.2:c.120-92T>C NP_071417.2:n.120-92T>C
NM_022134.3:c.120-92T>C MANE Select NP_071417.2:n.120-92T>C
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