Canonical Allele Identifier: CA1339800796
Gene: GAL3ST2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241801826_241801827delinsGT , CM000664.2:g.241801826_241801827delinsGT GRCh38
NC_000002.11:g.242741241_242741242delinsGT , CM000664.1:g.242741241_242741242delinsGT GRCh37
NC_000002.10:g.242389914_242389915delinsGT NCBI36
NG_046977.1:g.30002_30003delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000192314.7:c.165_166delinsGT MANE Select ENSP00000192314.6:p.Met55=
ENST00000192314.6:c.165_166delinsGT ENSP00000192314.6:p.Met55=
NM_022134.2:c.165_166delinsGT NP_071417.2:p.Met55=
NM_022134.3:c.165_166delinsGT MANE Select NP_071417.2:p.Met55=
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