Canonical Allele Identifier: CA351416605
Gene: GAL3ST2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801810C>A , CM000664.2:g.241801810C>A GRCh38
NC_000002.11:g.242741225C>A , CM000664.1:g.242741225C>A GRCh37
NC_000002.10:g.242389898C>A NCBI36
NG_046977.1:g.29986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.149C>A MANE Select ENSP00000192314.6:p.Pro50Gln
ENST00000192314.6:c.149C>A ENSP00000192314.6:p.Pro50Gln
NM_022134.2:c.149C>A NP_071417.2:p.Pro50Gln
NM_022134.3:c.149C>A MANE Select NP_071417.2:p.Pro50Gln