Canonical Allele Identifier: CA339699487

Gene: AK2

Linked Data

• MyVariant Identifiers: chr1:g.33478961T>C (hg19) ; chr1:g.33013360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013360T>C , CM000663.2:g.33013360T>C	GRCh38
NC_000001.10:g.33478961T>C , CM000663.1:g.33478961T>C	GRCh37
NC_000001.9:g.33251548T>C	NCBI36
NG_016269.1:g.28532A>G , LRG_133:g.28532A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000469238.2:n.1693A>G
ENST00000491241.2:c.*530A>G	ENSP00000512049.1:n.*530A>G
ENST00000550338.6:c.*530A>G	ENSP00000450008.1:n.*530A>G
ENST00000695598.1:n.1680A>G
ENST00000695599.1:c.*5423A>G	ENSP00000512046.1:n.*5423A>G
ENST00000695600.1:n.1855A>G
ENST00000695601.1:c.*530A>G	ENSP00000512047.1:n.*530A>G
ENST00000695602.1:c.*530A>G	ENSP00000512048.1:n.*530A>G
ENST00000695603.1:n.1693A>G
ENST00000695604.1:c.*347A>G	ENSP00000512050.1:n.*347A>G
ENST00000354858.11:c.415A>G	ENSP00000346921.7:p.Lys139Glu
ENST00000373449.7:c.541A>G	ENSP00000362548.2:p.Lys181Glu
ENST00000672308.1:n.576A>G
ENST00000672715.1:c.541A>G MANE Select	ENSP00000499935.1:p.Lys181Glu
ENST00000354858.10:c.541A>G	ENSP00000346921.6:p.Lys181Glu
ENST00000373449.6:c.541A>G	ENSP00000362548.2:p.Lys181Glu
ENST00000467905.5:c.541A>G	ENSP00000447082.1:p.Lys181Glu
ENST00000480134.5:c.*44A>G	ENSP00000450109.1:n.*44A>G
ENST00000548033.5:c.415A>G	ENSP00000449003.1:p.Lys139Glu
ENST00000550338.5:c.*530A>G	ENSP00000450008.1:n.*530A>G
ENST00000629371.2:c.*44A>G	ENSP00000486507.1:n.*44A>G
NM_001199199.1:c.517A>G	NP_001186128.1:p.Lys173Glu
NM_001625.3:c.541A>G	NP_001616.1:p.Lys181Glu
NM_013411.4:c.541A>G	NP_037543.1:p.Lys181Glu
NR_037591.1:n.742A>G
NR_037592.1:n.742A>G
XM_011540967.1:c.*44A>G	XP_011539269.1:n.*44A>G
XR_246248.1:n.581A>G
XR_946575.1:n.486A>G
NM_001319139.1:c.397A>G	NP_001306068.1:p.Lys133Glu
NM_001319140.1:c.397A>G	NP_001306069.1:p.Lys133Glu
NM_001319141.1:c.541A>G	NP_001306070.1:p.Lys181Glu
NM_001319142.1:c.415A>G	NP_001306071.1:p.Lys139Glu
NM_001319143.1:c.*44A>G	NP_001306072.1:n.*44A>G
NR_134976.1:n.529A>G
XR_001737036.1:n.486A>G
XR_246248.2:n.581A>G
NM_001199199.2:c.517A>G	NP_001186128.1:p.Lys173Glu
NM_001319139.2:c.397A>G	NP_001306068.1:p.Lys133Glu
NM_001319141.2:c.541A>G	NP_001306070.1:p.Lys181Glu
NM_001319142.2:c.415A>G	NP_001306071.1:p.Lys139Glu
NM_001625.4:c.541A>G MANE Select	NP_001616.1:p.Lys181Glu
NM_013411.5:c.541A>G	NP_037543.1:p.Lys181Glu
NR_134976.2:n.501A>G
NM_001199199.3:c.517A>G	NP_001186128.1:p.Lys173Glu
NM_001319139.3:c.397A>G	NP_001306068.1:p.Lys133Glu
NM_001319140.2:c.397A>G	NP_001306069.1:p.Lys133Glu
NM_001319141.3:c.541A>G	NP_001306070.1:p.Lys181Glu
NM_001319142.3:c.415A>G	NP_001306071.1:p.Lys139Glu
NM_001319143.2:c.*44A>G	NP_001306072.1:n.*44A>G
NR_134976.3:n.501A>G