Canonical Allele Identifier: CA6922436

Gene: ATP8A2

Linked Data

• ClinVar Variation Id: 446062
• ClinVar RCV Id: RCV000514617 ; RCV003942680
• dbSNP Id: rs369291641
• ExAC: 13:25946436 G / A
• gnomAD v2: 13-25946436-G-A
• gnomAD v3: 13-25372298-G-A
• gnomAD v4: 13-25372298-G-A
• MyVariant Identifiers: chr13:g.25946436G>A (hg19) ; chr13:g.25372298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25372298G>A , CM000675.2:g.25372298G>A	GRCh38
NC_000013.10:g.25946436G>A , CM000675.1:g.25946436G>A	GRCh37
NC_000013.9:g.24844436G>A	NCBI36
NG_042855.1:g.5288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281620.11:c.76+10G>A	ENSP00000281620.7:n.76+10G>A
ENST00000682472.1:c.76+10G>A	ENSP00000508103.1:n.76+10G>A
ENST00000682943.1:c.76+10G>A	ENSP00000507323.1:n.76+10G>A
ENST00000683303.1:c.76+10G>A	ENSP00000508339.1:n.76+10G>A
ENST00000683960.1:c.76+10G>A	ENSP00000506846.1:n.76+10G>A
ENST00000684283.1:c.76+10G>A	ENSP00000507994.1:n.76+10G>A
ENST00000381655.7:c.76+10G>A MANE Select	ENSP00000371070.2:n.76+10G>A
ENST00000381655.6:c.76+10G>A	ENSP00000371070.2:n.76+10G>A
NM_016529.4:c.76+10G>A	NP_057613.4:n.76+10G>A
NM_016529.5:c.76+10G>A	NP_057613.4:n.76+10G>A
XM_011535103.1:c.76+10G>A	XP_011533405.1:n.76+10G>A
XM_011535106.1:c.76+10G>A	XP_011533408.1:n.76+10G>A
XM_011535107.1:c.76+10G>A	XP_011533409.1:n.76+10G>A
XM_011535111.1:c.-400+10G>A	XP_011533413.1:n.-400+10G>A
XM_011535113.1:c.76+10G>A	XP_011533415.1:n.76+10G>A
XM_011535114.1:c.76+10G>A	XP_011533416.1:n.76+10G>A
XM_011535107.3:c.76+10G>A	XP_011533409.1:n.76+10G>A
XM_011535113.2:c.76+10G>A	XP_011533415.1:n.76+10G>A
XM_017020625.2:c.76+10G>A	XP_016876114.1:n.76+10G>A
XM_017020626.1:c.76+10G>A	XP_016876115.1:n.76+10G>A
NM_016529.6:c.76+10G>A MANE Select	NP_057613.4:n.76+10G>A