Canonical Allele Identifier: CA432241746
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs1289995614
gnomAD v3: 2-241801726-C-G
gnomAD v4: 2-241801726-C-G
MyVariant Identifiers: chr2:g.242741141C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801726C>G , CM000664.2:g.241801726C>G GRCh38
NC_000002.11:g.242741141C>G , CM000664.1:g.242741141C>G GRCh37
NC_000002.10:g.242389814C>G NCBI36
NG_046977.1:g.29902C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.120-55C>G MANE Select ENSP00000192314.6:n.120-55C>G
ENST00000192314.6:c.120-55C>G ENSP00000192314.6:n.120-55C>G
NM_022134.2:c.120-55C>G NP_071417.2:n.120-55C>G
NM_022134.3:c.120-55C>G MANE Select NP_071417.2:n.120-55C>G
Search 100 bp 5'
Search 100 bp 3'