Canonical Allele Identifier: CA636626

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16987044A>G , CM000663.2:g.16987044A>G	GRCh38
NC_000001.10:g.17313539A>G , CM000663.1:g.17313539A>G	GRCh37
NC_000001.9:g.17186126A>G	NCBI36
NG_009054.1:g.29885T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.3083+2T>C MANE Select	NP_071372.1:n.3083+2T>C
ENST00000326735.13:c.3083+2T>C MANE Select	ENSP00000327214.8:n.3083+2T>C
NM_001141973.2:c.3068+2T>C	NP_001135445.1:n.3068+2T>C
NM_001141973.3:c.3068+2T>C	NP_001135445.1:n.3068+2T>C
NM_001141974.2:c.2951+2T>C	NP_001135446.1:n.2951+2T>C
NM_001141974.3:c.2951+2T>C	NP_001135446.1:n.2951+2T>C
NM_022089.3:c.3083+2T>C	NP_071372.1:n.3083+2T>C
ENST00000326735.12:c.3083+2T>C	ENSP00000327214.8:n.3083+2T>C
ENST00000341676.9:c.2951+2T>C	ENSP00000341115.5:n.2951+2T>C
ENST00000452699.5:c.3068+2T>C	ENSP00000413307.1:n.3068+2T>C
ENST00000466561.1:n.957+2T>C
ENST00000502418.1:c.671+2T>C	ENSP00000423065.1:n.671+2T>C
XM_005245809.1:c.3083+2T>C	XP_005245866.1:n.3083+2T>C
XM_005245810.1:c.3080+2T>C	XP_005245867.1:n.3080+2T>C
XM_005245811.1:c.3068+2T>C	XP_005245868.1:n.3068+2T>C
XM_005245812.1:c.3056+2T>C	XP_005245869.1:n.3056+2T>C
XM_005245813.1:c.3023+2T>C	XP_005245870.1:n.3023+2T>C
XM_005245815.1:c.2966+2T>C	XP_005245872.1:n.2966+2T>C
XM_006710512.1:c.3065+2T>C	XP_006710575.1:n.3065+2T>C
XM_006710513.1:c.3041+2T>C	XP_006710576.1:n.3041+2T>C
XM_011541128.1:c.3068+2T>C	XP_011539430.1:n.3068+2T>C
XM_011541129.1:c.2876+2T>C	XP_011539431.1:n.2876+2T>C
XM_017000844.1:c.3068+2T>C	XP_016856333.1:n.3068+2T>C
XM_017000845.1:c.3065+2T>C	XP_016856334.1:n.3065+2T>C
XM_017000846.1:c.3041+2T>C	XP_016856335.1:n.3041+2T>C
XM_017000847.1:c.3038+2T>C	XP_016856336.1:n.3038+2T>C
XM_017000848.1:c.2966+2T>C	XP_016856337.1:n.2966+2T>C
XM_017000849.1:c.2951+2T>C	XP_016856338.1:n.2951+2T>C
XM_017000850.1:c.2876+2T>C	XP_016856339.1:n.2876+2T>C