Canonical Allele Identifier: CA432241849
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs778971076
gnomAD v2: 2-242741177-C-G
gnomAD v3: 2-241801762-C-G
gnomAD v4: 2-241801762-C-G
MyVariant Identifiers: chr2:g.242741177C>G (hg19) chr2:g.241801762C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801762C>G , CM000664.2:g.241801762C>G GRCh38
NC_000002.11:g.242741177C>G , CM000664.1:g.242741177C>G GRCh37
NC_000002.10:g.242389850C>G NCBI36
NG_046977.1:g.29938C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000192314.7:c.120-19C>G MANE Select ENSP00000192314.6:n.120-19C>G
ENST00000192314.6:c.120-19C>G ENSP00000192314.6:n.120-19C>G
NM_022134.2:c.120-19C>G NP_071417.2:n.120-19C>G
NM_022134.3:c.120-19C>G MANE Select NP_071417.2:n.120-19C>G
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