Canonical Allele Identifier: CA338233662

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313394G>C (hg19) ; chr1:g.16986899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986899G>C , CM000663.2:g.16986899G>C	GRCh38
NC_000001.10:g.17313394G>C , CM000663.1:g.17313394G>C	GRCh37
NC_000001.9:g.17185981G>C	NCBI36
NG_009054.1:g.30030C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3141C>G MANE Select	ENSP00000327214.8:p.Asn1047Lys
ENST00000326735.12:c.3141C>G	ENSP00000327214.8:p.Asn1047Lys
ENST00000341676.9:c.3009C>G	ENSP00000341115.5:p.Asn1003Lys
ENST00000452699.5:c.3126C>G	ENSP00000413307.1:p.Asn1042Lys
ENST00000466561.1:n.1015C>G
ENST00000502418.1:c.729C>G	ENSP00000423065.1:p.Asn243Lys
NM_001141973.2:c.3126C>G	NP_001135445.1:p.Asn1042Lys
NM_001141974.2:c.3009C>G	NP_001135446.1:p.Asn1003Lys
NM_022089.3:c.3141C>G	NP_071372.1:p.Asn1047Lys
XM_005245809.1:c.3141C>G	XP_005245866.1:p.Asn1047Lys
XM_005245810.1:c.3138C>G	XP_005245867.1:p.Asn1046Lys
XM_005245811.1:c.3126C>G	XP_005245868.1:p.Asn1042Lys
XM_005245812.1:c.3114C>G	XP_005245869.1:p.Asn1038Lys
XM_005245813.1:c.3081C>G	XP_005245870.1:p.Asn1027Lys
XM_005245815.1:c.3024C>G	XP_005245872.1:p.Asn1008Lys
XM_006710512.1:c.3123C>G	XP_006710575.1:p.Asn1041Lys
XM_006710513.1:c.3099C>G	XP_006710576.1:p.Asn1033Lys
XM_011541128.1:c.3126C>G	XP_011539430.1:p.Asn1042Lys
XM_011541129.1:c.2934C>G	XP_011539431.1:p.Asn978Lys
XM_017000844.1:c.3126C>G	XP_016856333.1:p.Asn1042Lys
XM_017000845.1:c.3123C>G	XP_016856334.1:p.Asn1041Lys
XM_017000846.1:c.3099C>G	XP_016856335.1:p.Asn1033Lys
XM_017000847.1:c.3096C>G	XP_016856336.1:p.Asn1032Lys
XM_017000848.1:c.3024C>G	XP_016856337.1:p.Asn1008Lys
XM_017000849.1:c.3009C>G	XP_016856338.1:p.Asn1003Lys
XM_017000850.1:c.2934C>G	XP_016856339.1:p.Asn978Lys
NM_022089.4:c.3141C>G MANE Select	NP_071372.1:p.Asn1047Lys
NM_001141973.3:c.3126C>G	NP_001135445.1:p.Asn1042Lys
NM_001141974.3:c.3009C>G	NP_001135446.1:p.Asn1003Lys