Canonical Allele Identifier: CA214776

Gene: ATP8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25699247G>C , CM000675.2:g.25699247G>C	GRCh38
NC_000013.10:g.26273385G>C , CM000675.1:g.26273385G>C	GRCh37
NC_000013.9:g.25171385G>C	NCBI36
NG_042855.1:g.332237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281620.11:c.2276G>C	ENSP00000281620.7:n.2276G>C
ENST00000682472.1:c.2286G>C	ENSP00000508103.1:p.Leu762=
ENST00000682942.1:n.2727G>C
ENST00000682943.1:c.*1820G>C	ENSP00000507323.1:n.*1820G>C
ENST00000683303.1:c.2286G>C	ENSP00000508339.1:p.Leu762=
ENST00000683845.1:n.2726G>C
ENST00000683945.1:n.2198G>C
ENST00000683960.1:c.2286G>C	ENSP00000506846.1:p.Leu762=
ENST00000684025.1:n.2351G>C
ENST00000684283.1:c.2286G>C	ENSP00000507994.1:p.Leu762=
ENST00000684424.1:c.2166G>C	ENSP00000507489.1:p.Leu722=
ENST00000381655.7:c.2286G>C MANE Select	ENSP00000371070.2:p.Leu762=
ENST00000255283.9:c.1704G>C	ENSP00000255283.9:p.Leu568=
ENST00000281620.10:c.1806G>C	ENSP00000281620.6:p.Leu602=
ENST00000381655.6:c.2286G>C	ENSP00000371070.2:p.Leu762=
ENST00000491840.1:n.1157G>C
NM_001313741.1:c.2166G>C	NP_001300670.1:p.Leu722=
NM_016529.4:c.2286G>C	NP_057613.4:p.Leu762=
NM_016529.5:c.2286G>C	NP_057613.4:p.Leu762=
XM_005266419.1:c.2166G>C	XP_005266476.1:p.Leu722=
XM_011535103.1:c.2286G>C	XP_011533405.1:p.Leu762=
XM_011535104.1:c.2166G>C	XP_011533406.1:p.Leu722=
XM_011535106.1:c.2286G>C	XP_011533408.1:p.Leu762=
XM_011535107.1:c.2286G>C	XP_011533409.1:p.Leu762=
XM_011535108.1:c.1806G>C	XP_011533410.1:p.Leu602=
XM_011535109.1:c.1806G>C	XP_011533411.1:p.Leu602=
XM_011535110.1:c.1737G>C	XP_011533412.1:p.Leu579=
XM_011535111.1:c.1737G>C	XP_011533413.1:p.Leu579=
XM_011535112.1:c.1806G>C	XP_011533414.1:p.Leu602=
XM_011535113.1:c.2286G>C	XP_011533415.1:p.Leu762=
XM_011535115.1:c.816G>C	XP_011533417.1:p.Leu272=
XM_011535104.3:c.2166G>C	XP_011533406.1:p.Leu722=
XM_011535107.3:c.2286G>C	XP_011533409.1:p.Leu762=
XM_011535109.3:c.1806G>C	XP_011533411.1:p.Leu602=
XM_011535113.2:c.2286G>C	XP_011533415.1:p.Leu762=
XM_024449369.1:c.1692G>C	XP_024305137.1:p.Leu564=
NM_016529.6:c.2286G>C MANE Select	NP_057613.4:p.Leu762=