Canonical Allele Identifier: CA338232341

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312791C>G (hg19) ; chr1:g.16986296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986296C>G , CM000663.2:g.16986296C>G	GRCh38
NC_000001.10:g.17312791C>G , CM000663.1:g.17312791C>G	GRCh37
NC_000001.9:g.17185378C>G	NCBI36
NG_009054.1:g.30633G>C
NG_029688.1:g.291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3468G>C MANE Select	ENSP00000327214.8:p.Lys1156Asn
ENST00000326735.12:c.3468G>C	ENSP00000327214.8:p.Lys1156Asn
ENST00000341676.9:c.3166G>C	ENSP00000341115.5:p.Glu1056Gln
ENST00000452699.5:c.3453G>C	ENSP00000413307.1:p.Lys1151Asn
ENST00000466561.1:n.1514G>C
ENST00000502418.1:c.886G>C	ENSP00000423065.1:p.Glu296Gln
NM_001141973.2:c.3453G>C	NP_001135445.1:p.Lys1151Asn
NM_001141974.2:c.3166G>C	NP_001135446.1:p.Glu1056Gln
NM_022089.3:c.3468G>C	NP_071372.1:p.Lys1156Asn
XM_005245809.1:c.3298G>C	XP_005245866.1:p.Glu1100Gln
XM_005245810.1:c.3295G>C	XP_005245867.1:p.Glu1099Gln
XM_005245811.1:c.3283G>C	XP_005245868.1:p.Glu1095Gln
XM_005245812.1:c.3271G>C	XP_005245869.1:p.Glu1091Gln
XM_005245813.1:c.3238G>C	XP_005245870.1:p.Glu1080Gln
XM_005245815.1:c.3181G>C	XP_005245872.1:p.Glu1061Gln
XM_006710512.1:c.3280G>C	XP_006710575.1:p.Glu1094Gln
XM_006710513.1:c.3256G>C	XP_006710576.1:p.Glu1086Gln
XM_011541128.1:c.3283G>C	XP_011539430.1:p.Glu1095Gln
XM_011541129.1:c.3091G>C	XP_011539431.1:p.Glu1031Gln
XM_017000844.1:c.3453G>C	XP_016856333.1:p.Lys1151Asn
XM_017000845.1:c.3450G>C	XP_016856334.1:p.Lys1150Asn
XM_017000846.1:c.3426G>C	XP_016856335.1:p.Lys1142Asn
XM_017000847.1:c.3423G>C	XP_016856336.1:p.Lys1141Asn
XM_017000848.1:c.3351G>C	XP_016856337.1:p.Lys1117Asn
XM_017000849.1:c.3336G>C	XP_016856338.1:p.Lys1112Asn
XM_017000850.1:c.3261G>C	XP_016856339.1:p.Lys1087Asn
NM_022089.4:c.3468G>C MANE Select	NP_071372.1:p.Lys1156Asn
NM_001141973.3:c.3453G>C	NP_001135445.1:p.Lys1151Asn
NM_001141974.3:c.3166G>C	NP_001135446.1:p.Glu1056Gln