Canonical Allele Identifier: CA338230527

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312544A>G (hg19) ; chr1:g.16986049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986049A>G , CM000663.2:g.16986049A>G	GRCh38
NC_000001.10:g.17312544A>G , CM000663.1:g.17312544A>G	GRCh37
NC_000001.9:g.17185131A>G	NCBI36
NG_009054.1:g.30880T>C
NG_029688.1:g.538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*172T>C MANE Select	ENSP00000327214.8:n.*172T>C
ENST00000326735.12:c.*172T>C	ENSP00000327214.8:n.*172T>C
ENST00000341676.9:c.3413T>C	ENSP00000341115.5:p.Leu1138Pro
ENST00000452699.5:c.*172T>C	ENSP00000413307.1:n.*172T>C
ENST00000466561.1:n.1761T>C
ENST00000502418.1:c.1133T>C	ENSP00000423065.1:p.Leu378Pro
NM_001141973.2:c.*172T>C	NP_001135445.1:n.*172T>C
NM_001141974.2:c.3413T>C	NP_001135446.1:p.Leu1138Pro
NM_022089.3:c.*172T>C	NP_071372.1:n.*172T>C
XM_005245809.1:c.3545T>C	XP_005245866.1:p.Leu1182Pro
XM_005245810.1:c.3542T>C	XP_005245867.1:p.Leu1181Pro
XM_005245811.1:c.3530T>C	XP_005245868.1:p.Leu1177Pro
XM_005245812.1:c.3518T>C	XP_005245869.1:p.Leu1173Pro
XM_005245813.1:c.3485T>C	XP_005245870.1:p.Leu1162Pro
XM_005245815.1:c.3428T>C	XP_005245872.1:p.Leu1143Pro
XM_006710512.1:c.3527T>C	XP_006710575.1:p.Leu1176Pro
XM_006710513.1:c.3503T>C	XP_006710576.1:p.Leu1168Pro
XM_011541128.1:c.3530T>C	XP_011539430.1:p.Leu1177Pro
XM_011541129.1:c.3338T>C	XP_011539431.1:p.Leu1113Pro
XM_017000844.1:c.*172T>C	XP_016856333.1:n.*172T>C
XM_017000845.1:c.*172T>C	XP_016856334.1:n.*172T>C
XM_017000846.1:c.*172T>C	XP_016856335.1:n.*172T>C
XM_017000847.1:c.*172T>C	XP_016856336.1:n.*172T>C
XM_017000848.1:c.*172T>C	XP_016856337.1:n.*172T>C
XM_017000849.1:c.*172T>C	XP_016856338.1:n.*172T>C
XM_017000850.1:c.*172T>C	XP_016856339.1:n.*172T>C
NM_022089.4:c.*172T>C MANE Select	NP_071372.1:n.*172T>C
NM_001141973.3:c.*172T>C	NP_001135445.1:n.*172T>C
NM_001141974.3:c.3413T>C	NP_001135446.1:p.Leu1138Pro