Canonical Allele Identifier: CA432241663
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs1023212761
gnomAD v3: 2-241801697-C-A
gnomAD v4: 2-241801697-C-A
MyVariant Identifiers: chr2:g.242741112C>A (hg19) chr2:g.241801697C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801697C>A , CM000664.2:g.241801697C>A GRCh38
NC_000002.11:g.242741112C>A , CM000664.1:g.242741112C>A GRCh37
NC_000002.10:g.242389785C>A NCBI36
NG_046977.1:g.29873C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.120-84C>A MANE Select ENSP00000192314.6:n.120-84C>A
ENST00000192314.6:c.120-84C>A ENSP00000192314.6:n.120-84C>A
NM_022134.2:c.120-84C>A NP_071417.2:n.120-84C>A
NM_022134.3:c.120-84C>A MANE Select NP_071417.2:n.120-84C>A
Search 100 bp 5'
Search 100 bp 3'