Canonical Allele Identifier: CA658653736
Gene: AK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 18254
dbSNP Id: rs1553151177

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.33014568del , CM000663.2:g.33014568del GRCh38
NC_000001.10:g.33480169del , CM000663.1:g.33480169del GRCh37
NC_000001.9:g.33252756del NCBI36
NG_016269.1:g.27325del , LRG_133:g.27325del

Transcript Alleles

HGVS Amino-acid Change
ENST00000469238.2:n.486del
ENST00000491241.2:c.*442del ENSP00000512049.1:n.*442del
ENST00000550338.6:c.*442del ENSP00000450008.1:n.*442del
ENST00000695598.1:n.1592del
ENST00000695599.1:c.*5335del ENSP00000512046.1:n.*5335del
ENST00000695600.1:n.648del
ENST00000695601.1:c.*442del ENSP00000512047.1:n.*442del
ENST00000695602.1:c.*442del ENSP00000512048.1:n.*442del
ENST00000695603.1:n.486del
ENST00000695604.1:c.*259del ENSP00000512050.1:n.*259del
ENST00000354858.11:c.327del ENSP00000346921.7:p.Tyr110ThrfsTer12
ENST00000373449.7:c.453del ENSP00000362548.2:p.Tyr152ThrfsTer12
ENST00000672308.1:n.488del
ENST00000672715.1:c.453del MANE Select ENSP00000499935.1:p.Tyr152ThrfsTer12
ENST00000354858.10:c.453del ENSP00000346921.6:p.Tyr152ThrfsTer12
ENST00000373449.6:c.453del ENSP00000362548.2:p.Tyr152ThrfsTer12
ENST00000466029.1:n.139del
ENST00000467905.5:c.453del ENSP00000447082.1:p.Tyr152ThrfsTer12
ENST00000469238.1:n.221del
ENST00000480134.5:c.358del ENSP00000450109.1:p.Leu120TyrfsTer?
ENST00000548033.5:c.327del ENSP00000449003.1:p.Tyr110ThrfsTer12
ENST00000550338.5:c.*442del ENSP00000450008.1:n.*442del
ENST00000629371.2:c.358del ENSP00000486507.1:p.Leu120TyrfsTer?
NM_001199199.1:c.429del NP_001186128.1:p.Tyr144ThrfsTer12
NM_001625.3:c.453del NP_001616.1:p.Tyr152ThrfsTer12
NM_013411.4:c.453del NP_037543.1:p.Tyr152ThrfsTer12
NR_037591.1:n.654del
NR_037592.1:n.654del
XM_011540967.1:c.358del XP_011539269.1:p.Leu120TyrfsTer?
XR_246248.1:n.493del
XR_946575.1:n.398del
NM_001319139.1:c.309del NP_001306068.1:p.Tyr104ThrfsTer12
NM_001319140.1:c.309del NP_001306069.1:p.Tyr104ThrfsTer12
NM_001319141.1:c.453del NP_001306070.1:p.Tyr152ThrfsTer12
NM_001319142.1:c.327del NP_001306071.1:p.Tyr110ThrfsTer12
NM_001319143.1:c.358del NP_001306072.1:p.Leu120TyrfsTer?
NR_134976.1:n.441del
XR_001737036.1:n.398del
XR_246248.2:n.493del
NM_001199199.2:c.429del NP_001186128.1:p.Tyr144ThrfsTer12
NM_001319139.2:c.309del NP_001306068.1:p.Tyr104ThrfsTer12
NM_001319141.2:c.453del NP_001306070.1:p.Tyr152ThrfsTer12
NM_001319142.2:c.327del NP_001306071.1:p.Tyr110ThrfsTer12
NM_001625.4:c.453del MANE Select NP_001616.1:p.Tyr152ThrfsTer12
NM_013411.5:c.453del NP_037543.1:p.Tyr152ThrfsTer12
NR_134976.2:n.413del
NM_001199199.3:c.429del NP_001186128.1:p.Tyr144ThrfsTer12
NM_001319139.3:c.309del NP_001306068.1:p.Tyr104ThrfsTer12
NM_001319140.2:c.309del NP_001306069.1:p.Tyr104ThrfsTer12
NM_001319141.3:c.453del NP_001306070.1:p.Tyr152ThrfsTer12
NM_001319142.3:c.327del NP_001306071.1:p.Tyr110ThrfsTer12
NM_001319143.2:c.358del NP_001306072.1:p.Leu120TyrfsTer?
NR_134976.3:n.413del