Canonical Allele Identifier: CA339699170

Gene: AK2

Linked Data

• MyVariant Identifiers: chr1:g.33478867G>A (hg19) ; chr1:g.33013266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013266G>A , CM000663.2:g.33013266G>A	GRCh38
NC_000001.10:g.33478867G>A , CM000663.1:g.33478867G>A	GRCh37
NC_000001.9:g.33251454G>A	NCBI36
NG_016269.1:g.28626C>T , LRG_133:g.28626C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000469238.2:n.1787C>T
ENST00000491241.2:c.*624C>T	ENSP00000512049.1:n.*624C>T
ENST00000550338.6:c.*624C>T	ENSP00000450008.1:n.*624C>T
ENST00000695598.1:n.1774C>T
ENST00000695599.1:c.*5517C>T	ENSP00000512046.1:n.*5517C>T
ENST00000695600.1:n.1949C>T
ENST00000695601.1:c.*624C>T	ENSP00000512047.1:n.*624C>T
ENST00000695602.1:c.*624C>T	ENSP00000512048.1:n.*624C>T
ENST00000695603.1:n.1787C>T
ENST00000695604.1:c.*441C>T	ENSP00000512050.1:n.*441C>T
ENST00000354858.11:c.509C>T	ENSP00000346921.7:p.Ala170Val
ENST00000373449.7:c.635C>T	ENSP00000362548.2:p.Ala212Val
ENST00000672308.1:n.670C>T
ENST00000672715.1:c.635C>T MANE Select	ENSP00000499935.1:p.Ala212Val
ENST00000354858.10:c.635C>T	ENSP00000346921.6:p.Ala212Val
ENST00000373449.6:c.635C>T	ENSP00000362548.2:p.Ala212Val
ENST00000467905.5:c.635C>T	ENSP00000447082.1:p.Ala212Val
ENST00000480134.5:c.*138C>T	ENSP00000450109.1:n.*138C>T
ENST00000491241.1:n.22C>T
ENST00000548033.5:c.509C>T	ENSP00000449003.1:p.Ala170Val
ENST00000550338.5:c.*624C>T	ENSP00000450008.1:n.*624C>T
ENST00000629371.2:c.*138C>T	ENSP00000486507.1:n.*138C>T
NM_001199199.1:c.611C>T	NP_001186128.1:p.Ala204Val
NM_001625.3:c.635C>T	NP_001616.1:p.Ala212Val
NM_013411.4:c.635C>T	NP_037543.1:p.Ala212Val
NR_037591.1:n.836C>T
NR_037592.1:n.836C>T
XM_011540967.1:c.*138C>T	XP_011539269.1:n.*138C>T
XR_246248.1:n.675C>T
XR_946575.1:n.580C>T
NM_001319139.1:c.491C>T	NP_001306068.1:p.Ala164Val
NM_001319140.1:c.491C>T	NP_001306069.1:p.Ala164Val
NM_001319141.1:c.635C>T	NP_001306070.1:p.Ala212Val
NM_001319142.1:c.509C>T	NP_001306071.1:p.Ala170Val
NM_001319143.1:c.*138C>T	NP_001306072.1:n.*138C>T
NR_134976.1:n.623C>T
XR_001737036.1:n.580C>T
XR_246248.2:n.675C>T
NM_001199199.2:c.611C>T	NP_001186128.1:p.Ala204Val
NM_001319139.2:c.491C>T	NP_001306068.1:p.Ala164Val
NM_001319141.2:c.635C>T	NP_001306070.1:p.Ala212Val
NM_001319142.2:c.509C>T	NP_001306071.1:p.Ala170Val
NM_001625.4:c.635C>T MANE Select	NP_001616.1:p.Ala212Val
NM_013411.5:c.635C>T	NP_037543.1:p.Ala212Val
NR_134976.2:n.595C>T
NM_001199199.3:c.611C>T	NP_001186128.1:p.Ala204Val
NM_001319139.3:c.491C>T	NP_001306068.1:p.Ala164Val
NM_001319140.2:c.491C>T	NP_001306069.1:p.Ala164Val
NM_001319141.3:c.635C>T	NP_001306070.1:p.Ala212Val
NM_001319142.3:c.509C>T	NP_001306071.1:p.Ala170Val
NM_001319143.2:c.*138C>T	NP_001306072.1:n.*138C>T
NR_134976.3:n.595C>T