Canonical Allele Identifier: CA68590907
Gene: GAL3ST2 HGNC NCBI

Linked Data

dbSNP Id: rs754883187
gnomAD v3: 2-241801666-TGGGG-T
gnomAD v4: 2-241801666-TGGGG-T
MyVariant Identifiers: chr2:g.242741082_242741085del (hg19) chr2:g.241801667_241801670del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801669_241801672del , CM000664.2:g.241801669_241801672del GRCh38
NC_000002.11:g.242741084_242741087del , CM000664.1:g.242741084_242741087del GRCh37
NC_000002.10:g.242389757_242389760del NCBI36
NG_046977.1:g.29845_29848del

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.120-112_120-109del MANE Select ENSP00000192314.6:n.120-112_120-109del
ENST00000192314.6:c.120-112_120-109del ENSP00000192314.6:n.120-112_120-109del
NM_022134.2:c.120-112_120-109del NP_071417.2:n.120-112_120-109del
NM_022134.3:c.120-112_120-109del MANE Select NP_071417.2:n.120-112_120-109del
Search 100 bp 5'
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