Canonical Allele Identifier: CA339699140

Gene: AK2

Linked Data

• MyVariant Identifiers: chr1:g.33478859T>G (hg19) ; chr1:g.33013258T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013258T>G , CM000663.2:g.33013258T>G	GRCh38
NC_000001.10:g.33478859T>G , CM000663.1:g.33478859T>G	GRCh37
NC_000001.9:g.33251446T>G	NCBI36
NG_016269.1:g.28634A>C , LRG_133:g.28634A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000469238.2:n.1795A>C
ENST00000491241.2:c.*632A>C	ENSP00000512049.1:n.*632A>C
ENST00000550338.6:c.*632A>C	ENSP00000450008.1:n.*632A>C
ENST00000695598.1:n.1782A>C
ENST00000695599.1:c.*5525A>C	ENSP00000512046.1:n.*5525A>C
ENST00000695600.1:n.1957A>C
ENST00000695601.1:c.*632A>C	ENSP00000512047.1:n.*632A>C
ENST00000695602.1:c.*632A>C	ENSP00000512048.1:n.*632A>C
ENST00000695603.1:n.1795A>C
ENST00000695604.1:c.*449A>C	ENSP00000512050.1:n.*449A>C
ENST00000354858.11:c.517A>C	ENSP00000346921.7:p.Thr173Pro
ENST00000373449.7:c.643A>C	ENSP00000362548.2:p.Thr215Pro
ENST00000672308.1:n.678A>C
ENST00000672715.1:c.643A>C MANE Select	ENSP00000499935.1:p.Thr215Pro
ENST00000354858.10:c.643A>C	ENSP00000346921.6:p.Thr215Pro
ENST00000373449.6:c.643A>C	ENSP00000362548.2:p.Thr215Pro
ENST00000467905.5:c.643A>C	ENSP00000447082.1:p.Thr215Pro
ENST00000480134.5:c.*146A>C	ENSP00000450109.1:n.*146A>C
ENST00000491241.1:n.30A>C
ENST00000548033.5:c.517A>C	ENSP00000449003.1:p.Thr173Pro
ENST00000550338.5:c.*632A>C	ENSP00000450008.1:n.*632A>C
ENST00000629371.2:c.*146A>C	ENSP00000486507.1:n.*146A>C
NM_001199199.1:c.619A>C	NP_001186128.1:p.Thr207Pro
NM_001625.3:c.643A>C	NP_001616.1:p.Thr215Pro
NM_013411.4:c.643A>C	NP_037543.1:p.Thr215Pro
NR_037591.1:n.844A>C
NR_037592.1:n.844A>C
XM_011540967.1:c.*146A>C	XP_011539269.1:n.*146A>C
XR_246248.1:n.683A>C
XR_946575.1:n.588A>C
NM_001319139.1:c.499A>C	NP_001306068.1:p.Thr167Pro
NM_001319140.1:c.499A>C	NP_001306069.1:p.Thr167Pro
NM_001319141.1:c.643A>C	NP_001306070.1:p.Thr215Pro
NM_001319142.1:c.517A>C	NP_001306071.1:p.Thr173Pro
NM_001319143.1:c.*146A>C	NP_001306072.1:n.*146A>C
NR_134976.1:n.631A>C
XR_001737036.1:n.588A>C
XR_246248.2:n.683A>C
NM_001199199.2:c.619A>C	NP_001186128.1:p.Thr207Pro
NM_001319139.2:c.499A>C	NP_001306068.1:p.Thr167Pro
NM_001319141.2:c.643A>C	NP_001306070.1:p.Thr215Pro
NM_001319142.2:c.517A>C	NP_001306071.1:p.Thr173Pro
NM_001625.4:c.643A>C MANE Select	NP_001616.1:p.Thr215Pro
NM_013411.5:c.643A>C	NP_037543.1:p.Thr215Pro
NR_134976.2:n.603A>C
NM_001199199.3:c.619A>C	NP_001186128.1:p.Thr207Pro
NM_001319139.3:c.499A>C	NP_001306068.1:p.Thr167Pro
NM_001319140.2:c.499A>C	NP_001306069.1:p.Thr167Pro
NM_001319141.3:c.643A>C	NP_001306070.1:p.Thr215Pro
NM_001319142.3:c.517A>C	NP_001306071.1:p.Thr173Pro
NM_001319143.2:c.*146A>C	NP_001306072.1:n.*146A>C
NR_134976.3:n.603A>C