Canonical Allele Identifier: CA249114

Gene: ATP8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25860860A>G , CM000675.2:g.25860860A>G	GRCh38
NC_000013.10:g.26434998A>G , CM000675.1:g.26434998A>G	GRCh37
NC_000013.9:g.25332998A>G	NCBI36
NG_042855.1:g.493850A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281620.11:c.3256A>G	ENSP00000281620.7:n.3256A>G
ENST00000682472.1:c.3000A>G	ENSP00000508103.1:p.Lys1000=
ENST00000682942.1:n.3516A>G
ENST00000682943.1:c.*2609A>G	ENSP00000507323.1:n.*2609A>G
ENST00000683303.1:c.2996A>G	ENSP00000508339.1:n.2996A>G
ENST00000683845.1:n.3515A>G
ENST00000683945.1:n.2987A>G
ENST00000683960.1:c.3075A>G	ENSP00000506846.1:p.Lys1025=
ENST00000684283.1:c.*107A>G	ENSP00000507994.1:n.*107A>G
ENST00000684424.1:c.2955A>G	ENSP00000507489.1:p.Lys985=
ENST00000381655.7:c.3075A>G MANE Select	ENSP00000371070.2:p.Lys1025=
ENST00000255283.9:c.2493A>G	ENSP00000255283.9:p.Lys831=
ENST00000281620.10:c.*854A>G	ENSP00000281620.6:n.*854A>G
ENST00000381655.6:c.3075A>G	ENSP00000371070.2:p.Lys1025=
ENST00000491840.1:n.1946A>G
NM_001313741.1:c.2880A>G	NP_001300670.1:p.Lys960=
NM_016529.4:c.3075A>G	NP_057613.4:p.Lys1025=
NM_016529.5:c.3075A>G	NP_057613.4:p.Lys1025=
XM_005266419.1:c.2955A>G	XP_005266476.1:p.Lys985=
XM_011535103.1:c.3000A>G	XP_011533405.1:p.Lys1000=
XM_011535104.1:c.2955A>G	XP_011533406.1:p.Lys985=
XM_011535106.1:c.3075A>G	XP_011533408.1:p.Lys1025=
XM_011535107.1:c.3075A>G	XP_011533409.1:p.Lys1025=
XM_011535108.1:c.2595A>G	XP_011533410.1:p.Lys865=
XM_011535109.1:c.2595A>G	XP_011533411.1:p.Lys865=
XM_011535110.1:c.2526A>G	XP_011533412.1:p.Lys842=
XM_011535111.1:c.2526A>G	XP_011533413.1:p.Lys842=
XM_011535112.1:c.2595A>G	XP_011533414.1:p.Lys865=
XM_011535115.1:c.1605A>G	XP_011533417.1:p.Lys535=
XM_011535104.3:c.2955A>G	XP_011533406.1:p.Lys985=
XM_011535107.3:c.3075A>G	XP_011533409.1:p.Lys1025=
XM_011535109.3:c.2595A>G	XP_011533411.1:p.Lys865=
XM_024449369.1:c.2481A>G	XP_024305137.1:p.Lys827=
NM_016529.6:c.3075A>G MANE Select	NP_057613.4:p.Lys1025=