Canonical Allele Identifier: CA235742

Gene: AK2

Linked Data

• ClinVar Variation Id: 190980
• ClinVar RCV Id: RCV000171151 ; RCV001283780
• dbSNP Id: rs559947967
• MyVariant Identifiers: chr1:g.33478957G>T (hg19) ; chr1:g.33013356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013356G>T , CM000663.2:g.33013356G>T	GRCh38
NC_000001.10:g.33478957G>T , CM000663.1:g.33478957G>T	GRCh37
NC_000001.9:g.33251544G>T	NCBI36
NG_016269.1:g.28536C>A , LRG_133:g.28536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469238.2:n.1697C>A
ENST00000491241.2:c.*534C>A	ENSP00000512049.1:n.*534C>A
ENST00000550338.6:c.*534C>A	ENSP00000450008.1:n.*534C>A
ENST00000695598.1:n.1684C>A
ENST00000695599.1:c.*5427C>A	ENSP00000512046.1:n.*5427C>A
ENST00000695600.1:n.1859C>A
ENST00000695601.1:c.*534C>A	ENSP00000512047.1:n.*534C>A
ENST00000695602.1:c.*534C>A	ENSP00000512048.1:n.*534C>A
ENST00000695603.1:n.1697C>A
ENST00000695604.1:c.*351C>A	ENSP00000512050.1:n.*351C>A
ENST00000354858.11:c.419C>A	ENSP00000346921.7:p.Ala140Asp
ENST00000373449.7:c.545C>A	ENSP00000362548.2:p.Ala182Asp
ENST00000672308.1:n.580C>A
ENST00000672715.1:c.545C>A MANE Select	ENSP00000499935.1:p.Ala182Asp
ENST00000354858.10:c.545C>A	ENSP00000346921.6:p.Ala182Asp
ENST00000373449.6:c.545C>A	ENSP00000362548.2:p.Ala182Asp
ENST00000467905.5:c.545C>A	ENSP00000447082.1:p.Ala182Asp
ENST00000480134.5:c.*48C>A	ENSP00000450109.1:n.*48C>A
ENST00000548033.5:c.419C>A	ENSP00000449003.1:p.Ala140Asp
ENST00000550338.5:c.*534C>A	ENSP00000450008.1:n.*534C>A
ENST00000629371.2:c.*48C>A	ENSP00000486507.1:n.*48C>A
NM_001199199.1:c.521C>A	NP_001186128.1:p.Ala174Asp
NM_001625.3:c.545C>A	NP_001616.1:p.Ala182Asp
NM_013411.4:c.545C>A	NP_037543.1:p.Ala182Asp
NR_037591.1:n.746C>A
NR_037592.1:n.746C>A
XM_011540967.1:c.*48C>A	XP_011539269.1:n.*48C>A
XR_246248.1:n.585C>A
XR_946575.1:n.490C>A
NM_001319139.1:c.401C>A	NP_001306068.1:p.Ala134Asp
NM_001319140.1:c.401C>A	NP_001306069.1:p.Ala134Asp
NM_001319141.1:c.545C>A	NP_001306070.1:p.Ala182Asp
NM_001319142.1:c.419C>A	NP_001306071.1:p.Ala140Asp
NM_001319143.1:c.*48C>A	NP_001306072.1:n.*48C>A
NR_134976.1:n.533C>A
XR_001737036.1:n.490C>A
XR_246248.2:n.585C>A
NM_001199199.2:c.521C>A	NP_001186128.1:p.Ala174Asp
NM_001319139.2:c.401C>A	NP_001306068.1:p.Ala134Asp
NM_001319141.2:c.545C>A	NP_001306070.1:p.Ala182Asp
NM_001319142.2:c.419C>A	NP_001306071.1:p.Ala140Asp
NM_001625.4:c.545C>A MANE Select	NP_001616.1:p.Ala182Asp
NM_013411.5:c.545C>A	NP_037543.1:p.Ala182Asp
NR_134976.2:n.505C>A
NM_001199199.3:c.521C>A	NP_001186128.1:p.Ala174Asp
NM_001319139.3:c.401C>A	NP_001306068.1:p.Ala134Asp
NM_001319140.2:c.401C>A	NP_001306069.1:p.Ala134Asp
NM_001319141.3:c.545C>A	NP_001306070.1:p.Ala182Asp
NM_001319142.3:c.419C>A	NP_001306071.1:p.Ala140Asp
NM_001319143.2:c.*48C>A	NP_001306072.1:n.*48C>A
NR_134976.3:n.505C>A