Canonical Allele Identifier: CA68591114
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs1034025774
MyVariant Identifiers: chr2:g.242741279T>C (hg19) chr2:g.241801864T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801864T>C , CM000664.2:g.241801864T>C GRCh38
NC_000002.11:g.242741279T>C , CM000664.1:g.242741279T>C GRCh37
NC_000002.10:g.242389952T>C NCBI36
NG_046977.1:g.30040T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.203T>C MANE Select ENSP00000192314.6:p.Leu68Pro
ENST00000192314.6:c.203T>C ENSP00000192314.6:p.Leu68Pro
NM_022134.2:c.203T>C NP_071417.2:p.Leu68Pro
NM_022134.3:c.203T>C MANE Select NP_071417.2:p.Leu68Pro
Search 100 bp 5'
Search 100 bp 3'