Canonical Allele Identifier: CA387614890

Gene: ATP8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25577140T>C , CM000675.2:g.25577140T>C	GRCh38
NC_000013.10:g.26151278T>C , CM000675.1:g.26151278T>C	GRCh37
NC_000013.9:g.25049278T>C	NCBI36
NG_042855.1:g.210130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281620.11:c.1772+2T>C	ENSP00000281620.7:n.1772+2T>C
ENST00000682472.1:c.1782+2T>C	ENSP00000508103.1:n.1782+2T>C
ENST00000682942.1:n.2223+2T>C
ENST00000682943.1:c.*1316+2T>C	ENSP00000507323.1:n.*1316+2T>C
ENST00000683303.1:c.1782+2T>C	ENSP00000508339.1:n.1782+2T>C
ENST00000683455.1:n.1040+2T>C
ENST00000683845.1:n.2222+2T>C
ENST00000683945.1:n.1694+2T>C
ENST00000683960.1:c.1782+2T>C	ENSP00000506846.1:n.1782+2T>C
ENST00000684025.1:n.1847+2T>C
ENST00000684283.1:c.1782+2T>C	ENSP00000507994.1:n.1782+2T>C
ENST00000684424.1:c.1662+2T>C	ENSP00000507489.1:n.1662+2T>C
ENST00000684551.1:n.953+2T>C
ENST00000381655.7:c.1782+2T>C MANE Select	ENSP00000371070.2:n.1782+2T>C
ENST00000255283.9:c.1624+5364T>C	ENSP00000255283.9:n.1624+5364T>C
ENST00000281620.10:c.1302+2T>C	ENSP00000281620.6:n.1302+2T>C
ENST00000381655.6:c.1782+2T>C	ENSP00000371070.2:n.1782+2T>C
ENST00000491840.1:n.533+2T>C
NM_001313741.1:c.1662+2T>C	NP_001300670.1:n.1662+2T>C
NM_016529.4:c.1782+2T>C	NP_057613.4:n.1782+2T>C
NM_016529.5:c.1782+2T>C	NP_057613.4:n.1782+2T>C
XM_005266419.1:c.1662+2T>C	XP_005266476.1:n.1662+2T>C
XM_011535103.1:c.1782+2T>C	XP_011533405.1:n.1782+2T>C
XM_011535104.1:c.1662+2T>C	XP_011533406.1:n.1662+2T>C
XM_011535106.1:c.1782+2T>C	XP_011533408.1:n.1782+2T>C
XM_011535107.1:c.1782+2T>C	XP_011533409.1:n.1782+2T>C
XM_011535108.1:c.1302+2T>C	XP_011533410.1:n.1302+2T>C
XM_011535109.1:c.1302+2T>C	XP_011533411.1:n.1302+2T>C
XM_011535110.1:c.1233+2T>C	XP_011533412.1:n.1233+2T>C
XM_011535111.1:c.1233+2T>C	XP_011533413.1:n.1233+2T>C
XM_011535112.1:c.1302+2T>C	XP_011533414.1:n.1302+2T>C
XM_011535113.1:c.1782+2T>C	XP_011533415.1:n.1782+2T>C
XM_011535114.1:c.1782+2T>C	XP_011533416.1:n.1782+2T>C
XM_011535115.1:c.312+2T>C	XP_011533417.1:n.312+2T>C
XM_011535104.3:c.1662+2T>C	XP_011533406.1:n.1662+2T>C
XM_011535107.3:c.1782+2T>C	XP_011533409.1:n.1782+2T>C
XM_011535109.3:c.1302+2T>C	XP_011533411.1:n.1302+2T>C
XM_011535113.2:c.1782+2T>C	XP_011533415.1:n.1782+2T>C
XM_017020625.2:c.1782+2T>C	XP_016876114.1:n.1782+2T>C
XM_017020626.1:c.1782+2T>C	XP_016876115.1:n.1782+2T>C
XM_024449369.1:c.1188+2T>C	XP_024305137.1:n.1188+2T>C
NM_016529.6:c.1782+2T>C MANE Select	NP_057613.4:n.1782+2T>C