Canonical Allele Identifier: CA351416604
Gene: GAL3ST2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801809C>T , CM000664.2:g.241801809C>T GRCh38
NC_000002.11:g.242741224C>T , CM000664.1:g.242741224C>T GRCh37
NC_000002.10:g.242389897C>T NCBI36
NG_046977.1:g.29985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.148C>T MANE Select ENSP00000192314.6:p.Pro50Ser
ENST00000192314.6:c.148C>T ENSP00000192314.6:p.Pro50Ser
NM_022134.2:c.148C>T NP_071417.2:p.Pro50Ser
NM_022134.3:c.148C>T MANE Select NP_071417.2:p.Pro50Ser