Canonical Allele Identifier: CA14426164
Gene: ST6GALNAC2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.76585943G>C
GRCh37 chr17:g.74582025G>C
gnomAD v2:
17:74582025 G / C
gnomAD v3:
17:76585943 G / C
gnomAD v4:
chr17-76585943-G-C
Joint Max Group AF 0.83601072 (EAS)
Genomes Max Group AF 0.82146697 (EAS)
Exomes Max Group AF 0.83563064 (EAS)
dbSNP:
1867561
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76585943G>C , CM000679.2:g.76585943G>C GRCh38
NC_000017.10:g.74582025G>C , CM000679.1:g.74582025G>C GRCh37
NC_000017.9:g.72093620G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225276.9:c.-135C>G ENSP00000225276.4:n.-135C>G
ENST00000585736.1:c.-135C>G ENSP00000466513.1:n.-135C>G
ENST00000588005.5:n.88+926C>G
NM_006456.2:c.-135C>G NP_006447.2:n.-135C>G
XM_005256954.3:c.-135C>G XP_005257011.1:n.-135C>G
XM_011524200.1:c.-135C>G XP_011522502.1:n.-135C>G
XR_934349.1:n.124C>G
XR_934350.1:n.124C>G
XR_934351.1:n.124C>G
XM_005256954.4:c.-135C>G XP_005257011.1:n.-135C>G
XR_001752403.2:n.186C>G
XR_001752404.2:n.186C>G
XR_001752405.2:n.186C>G
XR_001752406.2:n.124C>G
XR_001752407.2:n.124C>G
XR_934349.2:n.186C>G
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