Canonical Allele Identifier: CA8788601

Gene: ST6GALNAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76574416G>A , CM000679.2:g.76574416G>A	GRCh38
NC_000017.10:g.74570498G>A , CM000679.1:g.74570498G>A	GRCh37
NC_000017.9:g.72082093G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006456.3:c.310C>T MANE Select	NP_006447.2:p.Arg104Cys
ENST00000225276.10:c.310C>T MANE Select	ENSP00000225276.4:p.Arg104Cys
NM_006456.2:c.310C>T	NP_006447.2:p.Arg104Cys
ENST00000225276.9:c.310C>T	ENSP00000225276.4:p.Arg104Cys
ENST00000585736.1:c.*167C>T	ENSP00000466513.1:n.*167C>T
ENST00000586520.5:n.359C>T
ENST00000588005.5:n.273C>T
ENST00000588120.5:c.249C>T	ENSP00000465778.1:p.Thr83=
XM_005256954.3:c.310C>T	XP_005257011.1:p.Arg104Cys
XM_005256954.4:c.310C>T	XP_005257011.1:p.Arg104Cys
XM_011524200.1:c.310C>T	XP_011522502.1:p.Arg104Cys
XR_001752403.2:n.630C>T
XR_001752404.2:n.630C>T
XR_001752405.2:n.630C>T
XR_001752406.2:n.568C>T
XR_001752407.2:n.568C>T
XR_934349.1:n.568C>T
XR_934349.2:n.630C>T
XR_934350.1:n.568C>T
XR_934351.1:n.568C>T