Canonical Allele Identifier: CA432241864
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs1183891071
gnomAD v2: 2-242741183-C-T
gnomAD v4: 2-241801768-C-T
MyVariant Identifiers: chr2:g.242741183C>T (hg19) chr2:g.241801768C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801768C>T , CM000664.2:g.241801768C>T GRCh38
NC_000002.11:g.242741183C>T , CM000664.1:g.242741183C>T GRCh37
NC_000002.10:g.242389856C>T NCBI36
NG_046977.1:g.29944C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000192314.7:c.120-13C>T MANE Select ENSP00000192314.6:n.120-13C>T
ENST00000192314.6:c.120-13C>T ENSP00000192314.6:n.120-13C>T
NM_022134.2:c.120-13C>T NP_071417.2:n.120-13C>T
NM_022134.3:c.120-13C>T MANE Select NP_071417.2:n.120-13C>T
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