Canonical Allele Identifier: CA338231433

Gene: ATP13A2

Linked Data

• COSMIC: COSM5813921
• MyVariant Identifiers: chr1:g.17312655G>T (hg19) ; chr1:g.16986160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986160G>T , CM000663.2:g.16986160G>T	GRCh38
NC_000001.10:g.17312655G>T , CM000663.1:g.17312655G>T	GRCh37
NC_000001.9:g.17185242G>T	NCBI36
NG_009054.1:g.30769C>A
NG_029688.1:g.427C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.*61C>A MANE Select	ENSP00000327214.8:n.*61C>A
ENST00000326735.12:c.*61C>A	ENSP00000327214.8:n.*61C>A
ENST00000341676.9:c.3302C>A	ENSP00000341115.5:p.Pro1101His
ENST00000452699.5:c.*61C>A	ENSP00000413307.1:n.*61C>A
ENST00000466561.1:n.1650C>A
ENST00000502418.1:c.1022C>A	ENSP00000423065.1:p.Pro341His
NM_001141973.2:c.*61C>A	NP_001135445.1:n.*61C>A
NM_001141974.2:c.3302C>A	NP_001135446.1:p.Pro1101His
NM_022089.3:c.*61C>A	NP_071372.1:n.*61C>A
XM_005245809.1:c.3434C>A	XP_005245866.1:p.Pro1145His
XM_005245810.1:c.3431C>A	XP_005245867.1:p.Pro1144His
XM_005245811.1:c.3419C>A	XP_005245868.1:p.Pro1140His
XM_005245812.1:c.3407C>A	XP_005245869.1:p.Pro1136His
XM_005245813.1:c.3374C>A	XP_005245870.1:p.Pro1125His
XM_005245815.1:c.3317C>A	XP_005245872.1:p.Pro1106His
XM_006710512.1:c.3416C>A	XP_006710575.1:p.Pro1139His
XM_006710513.1:c.3392C>A	XP_006710576.1:p.Pro1131His
XM_011541128.1:c.3419C>A	XP_011539430.1:p.Pro1140His
XM_011541129.1:c.3227C>A	XP_011539431.1:p.Pro1076His
XM_017000844.1:c.*61C>A	XP_016856333.1:n.*61C>A
XM_017000845.1:c.*61C>A	XP_016856334.1:n.*61C>A
XM_017000846.1:c.*61C>A	XP_016856335.1:n.*61C>A
XM_017000847.1:c.*61C>A	XP_016856336.1:n.*61C>A
XM_017000848.1:c.*61C>A	XP_016856337.1:n.*61C>A
XM_017000849.1:c.*61C>A	XP_016856338.1:n.*61C>A
XM_017000850.1:c.*61C>A	XP_016856339.1:n.*61C>A
NM_022089.4:c.*61C>A MANE Select	NP_071372.1:n.*61C>A
NM_001141973.3:c.*61C>A	NP_001135445.1:n.*61C>A
NM_001141974.3:c.3302C>A	NP_001135446.1:p.Pro1101His