Canonical Allele Identifier: CA416093658

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313057C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986562C>A , CM000663.2:g.16986562C>A	GRCh38
NC_000001.10:g.17313057C>A , CM000663.1:g.17313057C>A	GRCh37
NC_000001.9:g.17185644C>A	NCBI36
NG_009054.1:g.30367G>T
NG_029688.1:g.25G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3306G>T MANE Select	ENSP00000327214.8:p.Leu1102=
ENST00000326735.12:c.3306G>T	ENSP00000327214.8:p.Leu1102=
ENST00000341676.9:c.3104-204G>T	ENSP00000341115.5:n.3104-204G>T
ENST00000452699.5:c.3291G>T	ENSP00000413307.1:p.Leu1097=
ENST00000466561.1:n.1352G>T
ENST00000502418.1:c.824-204G>T	ENSP00000423065.1:n.824-204G>T
NM_001141973.2:c.3291G>T	NP_001135445.1:p.Leu1097=
NM_001141974.2:c.3104-204G>T	NP_001135446.1:n.3104-204G>T
NM_022089.3:c.3306G>T	NP_071372.1:p.Leu1102=
XM_005245809.1:c.3236-204G>T	XP_005245866.1:n.3236-204G>T
XM_005245810.1:c.3233-204G>T	XP_005245867.1:n.3233-204G>T
XM_005245811.1:c.3221-204G>T	XP_005245868.1:n.3221-204G>T
XM_005245812.1:c.3209-204G>T	XP_005245869.1:n.3209-204G>T
XM_005245813.1:c.3176-204G>T	XP_005245870.1:n.3176-204G>T
XM_005245815.1:c.3119-204G>T	XP_005245872.1:n.3119-204G>T
XM_006710512.1:c.3218-204G>T	XP_006710575.1:n.3218-204G>T
XM_006710513.1:c.3194-204G>T	XP_006710576.1:n.3194-204G>T
XM_011541128.1:c.3221-204G>T	XP_011539430.1:n.3221-204G>T
XM_011541129.1:c.3029-204G>T	XP_011539431.1:n.3029-204G>T
XM_017000844.1:c.3291G>T	XP_016856333.1:p.Leu1097=
XM_017000845.1:c.3288G>T	XP_016856334.1:p.Leu1096=
XM_017000846.1:c.3264G>T	XP_016856335.1:p.Leu1088=
XM_017000847.1:c.3261G>T	XP_016856336.1:p.Leu1087=
XM_017000848.1:c.3189G>T	XP_016856337.1:p.Leu1063=
XM_017000849.1:c.3174G>T	XP_016856338.1:p.Leu1058=
XM_017000850.1:c.3099G>T	XP_016856339.1:p.Leu1033=
NM_022089.4:c.3306G>T MANE Select	NP_071372.1:p.Leu1102=
NM_001141973.3:c.3291G>T	NP_001135445.1:p.Leu1097=
NM_001141974.3:c.3104-204G>T	NP_001135446.1:n.3104-204G>T