Canonical Allele Identifier: CA338233744

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313404T>A (hg19) ; chr1:g.16986909T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986909T>A , CM000663.2:g.16986909T>A	GRCh38
NC_000001.10:g.17313404T>A , CM000663.1:g.17313404T>A	GRCh37
NC_000001.9:g.17185991T>A	NCBI36
NG_009054.1:g.30020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3131A>T MANE Select	ENSP00000327214.8:p.Asn1044Ile
ENST00000326735.12:c.3131A>T	ENSP00000327214.8:p.Asn1044Ile
ENST00000341676.9:c.2999A>T	ENSP00000341115.5:p.Asn1000Ile
ENST00000452699.5:c.3116A>T	ENSP00000413307.1:p.Asn1039Ile
ENST00000466561.1:n.1005A>T
ENST00000502418.1:c.719A>T	ENSP00000423065.1:p.Asn240Ile
NM_001141973.2:c.3116A>T	NP_001135445.1:p.Asn1039Ile
NM_001141974.2:c.2999A>T	NP_001135446.1:p.Asn1000Ile
NM_022089.3:c.3131A>T	NP_071372.1:p.Asn1044Ile
XM_005245809.1:c.3131A>T	XP_005245866.1:p.Asn1044Ile
XM_005245810.1:c.3128A>T	XP_005245867.1:p.Asn1043Ile
XM_005245811.1:c.3116A>T	XP_005245868.1:p.Asn1039Ile
XM_005245812.1:c.3104A>T	XP_005245869.1:p.Asn1035Ile
XM_005245813.1:c.3071A>T	XP_005245870.1:p.Asn1024Ile
XM_005245815.1:c.3014A>T	XP_005245872.1:p.Asn1005Ile
XM_006710512.1:c.3113A>T	XP_006710575.1:p.Asn1038Ile
XM_006710513.1:c.3089A>T	XP_006710576.1:p.Asn1030Ile
XM_011541128.1:c.3116A>T	XP_011539430.1:p.Asn1039Ile
XM_011541129.1:c.2924A>T	XP_011539431.1:p.Asn975Ile
XM_017000844.1:c.3116A>T	XP_016856333.1:p.Asn1039Ile
XM_017000845.1:c.3113A>T	XP_016856334.1:p.Asn1038Ile
XM_017000846.1:c.3089A>T	XP_016856335.1:p.Asn1030Ile
XM_017000847.1:c.3086A>T	XP_016856336.1:p.Asn1029Ile
XM_017000848.1:c.3014A>T	XP_016856337.1:p.Asn1005Ile
XM_017000849.1:c.2999A>T	XP_016856338.1:p.Asn1000Ile
XM_017000850.1:c.2924A>T	XP_016856339.1:p.Asn975Ile
NM_022089.4:c.3131A>T MANE Select	NP_071372.1:p.Asn1044Ile
NM_001141973.3:c.3116A>T	NP_001135445.1:p.Asn1039Ile
NM_001141974.3:c.2999A>T	NP_001135446.1:p.Asn1000Ile