Canonical Allele Identifier: CA2222360
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs749339168
ExAC: 2:242741157 T / G
gnomAD v2: 2-242741157-T-G
gnomAD v4: 2-241801742-T-G
MyVariant Identifiers: chr2:g.242741157T>G (hg19) chr2:g.241801742T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801742T>G , CM000664.2:g.241801742T>G GRCh38
NC_000002.11:g.242741157T>G , CM000664.1:g.242741157T>G GRCh37
NC_000002.10:g.242389830T>G NCBI36
NG_046977.1:g.29918T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.120-39T>G MANE Select ENSP00000192314.6:n.120-39T>G
ENST00000192314.6:c.120-39T>G ENSP00000192314.6:n.120-39T>G
NM_022134.2:c.120-39T>G NP_071417.2:n.120-39T>G
NM_022134.3:c.120-39T>G MANE Select NP_071417.2:n.120-39T>G
Search 100 bp 5'
Search 100 bp 3'