Canonical Allele Identifier: CA6923338
Community Standard Title: NM_016529.6(ATP8A2):c.2458G>A (p.Gly820Arg)
Gene: ATP8A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.25769119G>A , CM000675.2:g.25769119G>A GRCh38
NC_000013.10:g.26343257G>A , CM000675.1:g.26343257G>A GRCh37
NC_000013.9:g.25241257G>A NCBI36
NG_042855.1:g.402109G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016529.6:c.2458G>A MANE Select NP_057613.4:p.Gly820Arg
ENST00000381655.7:c.2458G>A MANE Select ENSP00000371070.2:p.Gly820Arg
NM_001313741.1:c.2338G>A NP_001300670.1:p.Gly780Arg
NM_016529.4:c.2458G>A NP_057613.4:p.Gly820Arg
NM_016529.5:c.2458G>A NP_057613.4:p.Gly820Arg
ENST00000255283.9:c.1876G>A ENSP00000255283.9:p.Gly626Arg
ENST00000281620.10:c.*237G>A ENSP00000281620.6:n.*237G>A
ENST00000281620.11:c.2639G>A ENSP00000281620.7:n.2639G>A
ENST00000381655.6:c.2458G>A ENSP00000371070.2:p.Gly820Arg
ENST00000491840.1:n.1329G>A
ENST00000682472.1:c.2458G>A ENSP00000508103.1:p.Gly820Arg
ENST00000682942.1:n.2899G>A
ENST00000682943.1:c.*1992G>A ENSP00000507323.1:n.*1992G>A
ENST00000683303.1:c.2458G>A ENSP00000508339.1:p.Gly820Arg
ENST00000683845.1:n.2898G>A
ENST00000683945.1:n.2370G>A
ENST00000683960.1:c.2458G>A ENSP00000506846.1:p.Gly820Arg
ENST00000684283.1:c.2458G>A ENSP00000507994.1:p.Gly820Arg
ENST00000684424.1:c.2338G>A ENSP00000507489.1:p.Gly780Arg
XM_005266419.1:c.2338G>A XP_005266476.1:p.Gly780Arg
XM_011535103.1:c.2458G>A XP_011533405.1:p.Gly820Arg
XM_011535104.1:c.2338G>A XP_011533406.1:p.Gly780Arg
XM_011535104.3:c.2338G>A XP_011533406.1:p.Gly780Arg
XM_011535106.1:c.2458G>A XP_011533408.1:p.Gly820Arg
XM_011535107.1:c.2458G>A XP_011533409.1:p.Gly820Arg
XM_011535107.3:c.2458G>A XP_011533409.1:p.Gly820Arg
XM_011535108.1:c.1978G>A XP_011533410.1:p.Gly660Arg
XM_011535109.1:c.1978G>A XP_011533411.1:p.Gly660Arg
XM_011535109.3:c.1978G>A XP_011533411.1:p.Gly660Arg
XM_011535110.1:c.1909G>A XP_011533412.1:p.Gly637Arg
XM_011535111.1:c.1909G>A XP_011533413.1:p.Gly637Arg
XM_011535112.1:c.1978G>A XP_011533414.1:p.Gly660Arg
XM_011535115.1:c.988G>A XP_011533417.1:p.Gly330Arg
XM_024449369.1:c.1864G>A XP_024305137.1:p.Gly622Arg