Canonical Allele Identifier: CA2222371
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs201051449
ExAC: 2:242741218 G / T
gnomAD v2: 2-242741218-G-T
gnomAD v3: 2-241801803-G-T
gnomAD v4: 2-241801803-G-T
MyVariant Identifiers: chr2:g.242741218G>T (hg19) chr2:g.241801803G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801803G>T , CM000664.2:g.241801803G>T GRCh38
NC_000002.11:g.242741218G>T , CM000664.1:g.242741218G>T GRCh37
NC_000002.10:g.242389891G>T NCBI36
NG_046977.1:g.29979G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.142G>T MANE Select ENSP00000192314.6:p.Gly48Trp
ENST00000192314.6:c.142G>T ENSP00000192314.6:p.Gly48Trp
NM_022134.2:c.142G>T NP_071417.2:p.Gly48Trp
NM_022134.3:c.142G>T MANE Select NP_071417.2:p.Gly48Trp
Search 100 bp 5'
Search 100 bp 3'