Canonical Allele Identifier: CA401190497
Community Standard Title: NM_006456.3(ST6GALNAC2):c.469G>C (p.Gly157Arg)
Gene: ST6GALNAC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76573256C>G , CM000679.2:g.76573256C>G GRCh38
NC_000017.10:g.74569338C>G , CM000679.1:g.74569338C>G GRCh37
NC_000017.9:g.72080933C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006456.3:c.469G>C MANE Select NP_006447.2:p.Gly157Arg
ENST00000225276.10:c.469G>C MANE Select ENSP00000225276.4:p.Gly157Arg
NM_006456.2:c.469G>C NP_006447.2:p.Gly157Arg
ENST00000225276.9:c.469G>C ENSP00000225276.4:p.Gly157Arg
ENST00000586520.5:n.518G>C
ENST00000588005.5:n.368G>C
ENST00000588120.5:c.*153G>C ENSP00000465778.1:n.*153G>C
ENST00000588920.1:c.94G>C ENSP00000466560.1:p.Gly32Arg
XM_005256954.3:c.469G>C XP_005257011.1:p.Gly157Arg
XM_005256954.4:c.469G>C XP_005257011.1:p.Gly157Arg
XM_011524200.1:c.469G>C XP_011522502.1:p.Gly157Arg
XR_001752403.2:n.789G>C
XR_001752404.2:n.789G>C
XR_001752405.2:n.789G>C
XR_001752406.2:n.727G>C
XR_001752407.2:n.727G>C
XR_934349.1:n.727G>C
XR_934349.2:n.789G>C
XR_934350.1:n.727G>C
XR_934351.1:n.727G>C