Canonical Allele Identifier: CA338230414

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1205042144
• gnomAD v3: 1-16986010-A-G
• gnomAD v4: 1-16986010-A-G
• MyVariant Identifiers: chr1:g.17312505A>G (hg19) ; chr1:g.16986010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986010A>G , CM000663.2:g.16986010A>G	GRCh38
NC_000001.10:g.17312505A>G , CM000663.1:g.17312505A>G	GRCh37
NC_000001.9:g.17185092A>G	NCBI36
NG_009054.1:g.30919T>C
NG_029688.1:g.577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*211T>C MANE Select	ENSP00000327214.8:n.*211T>C
ENST00000326735.12:c.*211T>C	ENSP00000327214.8:n.*211T>C
ENST00000341676.9:c.3452T>C	ENSP00000341115.5:p.Leu1151Pro
ENST00000452699.5:c.*211T>C	ENSP00000413307.1:n.*211T>C
ENST00000466561.1:n.1800T>C
ENST00000502418.1:c.1172T>C	ENSP00000423065.1:p.Leu391Pro
NM_001141973.2:c.*211T>C	NP_001135445.1:n.*211T>C
NM_001141974.2:c.3452T>C	NP_001135446.1:p.Leu1151Pro
NM_022089.3:c.*211T>C	NP_071372.1:n.*211T>C
XM_005245809.1:c.3584T>C	XP_005245866.1:p.Leu1195Pro
XM_005245810.1:c.3581T>C	XP_005245867.1:p.Leu1194Pro
XM_005245811.1:c.3569T>C	XP_005245868.1:p.Leu1190Pro
XM_005245812.1:c.3557T>C	XP_005245869.1:p.Leu1186Pro
XM_005245813.1:c.3524T>C	XP_005245870.1:p.Leu1175Pro
XM_005245815.1:c.3467T>C	XP_005245872.1:p.Leu1156Pro
XM_006710512.1:c.3566T>C	XP_006710575.1:p.Leu1189Pro
XM_006710513.1:c.3542T>C	XP_006710576.1:p.Leu1181Pro
XM_011541128.1:c.3569T>C	XP_011539430.1:p.Leu1190Pro
XM_011541129.1:c.3377T>C	XP_011539431.1:p.Leu1126Pro
XM_017000844.1:c.*211T>C	XP_016856333.1:n.*211T>C
XM_017000845.1:c.*211T>C	XP_016856334.1:n.*211T>C
XM_017000846.1:c.*211T>C	XP_016856335.1:n.*211T>C
XM_017000847.1:c.*211T>C	XP_016856336.1:n.*211T>C
XM_017000848.1:c.*211T>C	XP_016856337.1:n.*211T>C
XM_017000849.1:c.*211T>C	XP_016856338.1:n.*211T>C
XM_017000850.1:c.*211T>C	XP_016856339.1:n.*211T>C
NM_022089.4:c.*211T>C MANE Select	NP_071372.1:n.*211T>C
NM_001141973.3:c.*211T>C	NP_001135445.1:n.*211T>C
NM_001141974.3:c.3452T>C	NP_001135446.1:p.Leu1151Pro