Canonical Allele Identifier: CA2222379
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs779056964
ExAC: 2:242741240 T / C
gnomAD v2: 2-242741240-T-C
MyVariant Identifiers: chr2:g.242741240T>C (hg19) chr2:g.241801825T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801825T>C , CM000664.2:g.241801825T>C GRCh38
NC_000002.11:g.242741240T>C , CM000664.1:g.242741240T>C GRCh37
NC_000002.10:g.242389913T>C NCBI36
NG_046977.1:g.30001T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.164T>C MANE Select ENSP00000192314.6:p.Met55Thr
ENST00000192314.6:c.164T>C ENSP00000192314.6:p.Met55Thr
NM_022134.2:c.164T>C NP_071417.2:p.Met55Thr
NM_022134.3:c.164T>C MANE Select NP_071417.2:p.Met55Thr
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