Canonical Allele Identifier: CA2622416329

Gene: ATP8A2

Linked Data

• gnomAD v4: 13-25530116-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25530116G>T , CM000675.2:g.25530116G>T	GRCh38
NC_000013.10:g.26104254G>T , CM000675.1:g.26104254G>T	GRCh37
NC_000013.9:g.25002254G>T	NCBI36
NG_042855.1:g.163106G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281620.11:c.321+18G>T	ENSP00000281620.7:n.321+18G>T
ENST00000682472.1:c.321+18G>T	ENSP00000508103.1:n.321+18G>T
ENST00000682580.1:n.273+18G>T
ENST00000682942.1:n.762+18G>T
ENST00000682943.1:c.222-2156G>T	ENSP00000507323.1:n.222-2156G>T
ENST00000683303.1:c.321+18G>T	ENSP00000508339.1:n.321+18G>T
ENST00000683845.1:n.761+18G>T
ENST00000683945.1:n.233+18G>T
ENST00000683960.1:c.321+18G>T	ENSP00000506846.1:n.321+18G>T
ENST00000684025.1:n.386+18G>T
ENST00000684283.1:c.321+18G>T	ENSP00000507994.1:n.321+18G>T
ENST00000684424.1:c.201+18G>T	ENSP00000507489.1:n.201+18G>T
ENST00000381655.7:c.321+18G>T MANE Select	ENSP00000371070.2:n.321+18G>T
ENST00000255283.9:c.201+18G>T	ENSP00000255283.9:n.201+18G>T
ENST00000281620.10:c.-150+18G>T	ENSP00000281620.6:n.-150+18G>T
ENST00000381648.7:n.245+18G>T
ENST00000381655.6:c.321+18G>T	ENSP00000371070.2:n.321+18G>T
NM_001313741.1:c.201+18G>T	NP_001300670.1:n.201+18G>T
NM_016529.4:c.321+18G>T	NP_057613.4:n.321+18G>T
NM_016529.5:c.321+18G>T	NP_057613.4:n.321+18G>T
XM_005266419.1:c.201+18G>T	XP_005266476.1:n.201+18G>T
XM_011535103.1:c.321+18G>T	XP_011533405.1:n.321+18G>T
XM_011535104.1:c.201+18G>T	XP_011533406.1:n.201+18G>T
XM_011535106.1:c.321+18G>T	XP_011533408.1:n.321+18G>T
XM_011535107.1:c.321+18G>T	XP_011533409.1:n.321+18G>T
XM_011535108.1:c.-160+18G>T	XP_011533410.1:n.-160+18G>T
XM_011535109.1:c.-160+18G>T	XP_011533411.1:n.-160+18G>T
XM_011535110.1:c.-155+18G>T	XP_011533412.1:n.-155+18G>T
XM_011535111.1:c.-155+18G>T	XP_011533413.1:n.-155+18G>T
XM_011535112.1:c.-160+18G>T	XP_011533414.1:n.-160+18G>T
XM_011535113.1:c.321+18G>T	XP_011533415.1:n.321+18G>T
XM_011535114.1:c.321+18G>T	XP_011533416.1:n.321+18G>T
XM_011535104.3:c.201+18G>T	XP_011533406.1:n.201+18G>T
XM_011535107.3:c.321+18G>T	XP_011533409.1:n.321+18G>T
XM_011535109.3:c.-160+18G>T	XP_011533411.1:n.-160+18G>T
XM_011535113.2:c.321+18G>T	XP_011533415.1:n.321+18G>T
XM_017020625.2:c.321+18G>T	XP_016876114.1:n.321+18G>T
XM_017020626.1:c.321+18G>T	XP_016876115.1:n.321+18G>T
NM_016529.6:c.321+18G>T MANE Select	NP_057613.4:n.321+18G>T