Canonical Allele Identifier: CA2222365
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs542709814
ExAC: 2:242741185 T / C
gnomAD v2: 2-242741185-T-C
gnomAD v3: 2-241801770-T-C
gnomAD v4: 2-241801770-T-C
MyVariant Identifiers: chr2:g.242741185T>C (hg19) chr2:g.241801770T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801770T>C , CM000664.2:g.241801770T>C GRCh38
NC_000002.11:g.242741185T>C , CM000664.1:g.242741185T>C GRCh37
NC_000002.10:g.242389858T>C NCBI36
NG_046977.1:g.29946T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000192314.7:c.120-11T>C MANE Select ENSP00000192314.6:n.120-11T>C
ENST00000192314.6:c.120-11T>C ENSP00000192314.6:n.120-11T>C
NM_022134.2:c.120-11T>C NP_071417.2:n.120-11T>C
NM_022134.3:c.120-11T>C MANE Select NP_071417.2:n.120-11T>C
Search 100 bp 5'
Search 100 bp 3'