Canonical Allele Identifier: CA401190418
Community Standard Title: NM_006456.3(ST6GALNAC2):c.508G>A (p.Asp170Asn)
Gene: ST6GALNAC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76573217C>T , CM000679.2:g.76573217C>T GRCh38
NC_000017.10:g.74569299C>T , CM000679.1:g.74569299C>T GRCh37
NC_000017.9:g.72080894C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006456.3:c.508G>A MANE Select NP_006447.2:p.Asp170Asn
ENST00000225276.10:c.508G>A MANE Select ENSP00000225276.4:p.Asp170Asn
NM_006456.2:c.508G>A NP_006447.2:p.Asp170Asn
ENST00000225276.9:c.508G>A ENSP00000225276.4:p.Asp170Asn
ENST00000586520.5:n.557G>A
ENST00000588005.5:n.407G>A
ENST00000588120.5:c.*192G>A ENSP00000465778.1:n.*192G>A
ENST00000588920.1:c.133G>A ENSP00000466560.1:p.Asp45Asn
XM_005256954.3:c.508G>A XP_005257011.1:p.Asp170Asn
XM_005256954.4:c.508G>A XP_005257011.1:p.Asp170Asn
XM_011524200.1:c.508G>A XP_011522502.1:p.Asp170Asn
XR_001752403.2:n.828G>A
XR_001752404.2:n.828G>A
XR_001752405.2:n.828G>A
XR_001752406.2:n.766G>A
XR_001752407.2:n.766G>A
XR_934349.1:n.766G>A
XR_934349.2:n.828G>A
XR_934350.1:n.766G>A
XR_934351.1:n.766G>A