Canonical Allele Identifier: CA294230865
Community Standard Title: NM_006456.3(ST6GALNAC2):c.559G>A (p.Glu187Lys)
Gene: ST6GALNAC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76572747C>T , CM000679.2:g.76572747C>T GRCh38
NC_000017.10:g.74568829C>T , CM000679.1:g.74568829C>T GRCh37
NC_000017.9:g.72080424C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006456.3:c.559G>A MANE Select NP_006447.2:p.Glu187Lys
ENST00000225276.10:c.559G>A MANE Select ENSP00000225276.4:p.Glu187Lys
NM_006456.2:c.559G>A NP_006447.2:p.Glu187Lys
ENST00000225276.9:c.559G>A ENSP00000225276.4:p.Glu187Lys
ENST00000586520.5:n.608G>A
ENST00000588005.5:n.458G>A
ENST00000588120.5:c.*243G>A ENSP00000465778.1:n.*243G>A
ENST00000588920.1:c.184G>A ENSP00000466560.1:p.Glu62Lys
XM_005256954.3:c.559G>A XP_005257011.1:p.Glu187Lys
XM_005256954.4:c.559G>A XP_005257011.1:p.Glu187Lys
XM_011524200.1:c.559G>A XP_011522502.1:p.Glu187Lys
XR_001752403.2:n.879G>A
XR_001752404.2:n.879G>A
XR_001752405.2:n.879G>A
XR_001752406.2:n.817G>A
XR_001752407.2:n.817G>A
XR_934349.1:n.817G>A
XR_934349.2:n.879G>A
XR_934350.1:n.817G>A
XR_934351.1:n.817G>A