Canonical Allele Identifier: CA747087

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013410C>A , CM000663.2:g.33013410C>A	GRCh38
NC_000001.10:g.33479011C>A , CM000663.1:g.33479011C>A	GRCh37
NC_000001.9:g.33251598C>A	NCBI36
NG_016269.1:g.28482G>T , LRG_133:g.28482G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001625.4:c.499-8G>T MANE Select	NP_001616.1:n.499-8G>T
ENST00000672715.1:c.499-8G>T MANE Select	ENSP00000499935.1:n.499-8G>T
NM_001199199.1:c.475-8G>T	NP_001186128.1:n.475-8G>T
NM_001199199.2:c.475-8G>T	NP_001186128.1:n.475-8G>T
NM_001199199.3:c.475-8G>T	NP_001186128.1:n.475-8G>T
NM_001319139.1:c.355-8G>T	NP_001306068.1:n.355-8G>T
NM_001319139.2:c.355-8G>T	NP_001306068.1:n.355-8G>T
NM_001319139.3:c.355-8G>T	NP_001306068.1:n.355-8G>T
NM_001319140.1:c.355-8G>T	NP_001306069.1:n.355-8G>T
NM_001319140.2:c.355-8G>T	NP_001306069.1:n.355-8G>T
NM_001319141.1:c.499-8G>T	NP_001306070.1:n.499-8G>T
NM_001319141.2:c.499-8G>T	NP_001306070.1:n.499-8G>T
NM_001319141.3:c.499-8G>T	NP_001306070.1:n.499-8G>T
NM_001319142.1:c.373-8G>T	NP_001306071.1:n.373-8G>T
NM_001319142.2:c.373-8G>T	NP_001306071.1:n.373-8G>T
NM_001319142.3:c.373-8G>T	NP_001306071.1:n.373-8G>T
NM_001319143.1:c.*2-8G>T	NP_001306072.1:n.*2-8G>T
NM_001319143.2:c.*2-8G>T	NP_001306072.1:n.*2-8G>T
NM_001625.3:c.499-8G>T	NP_001616.1:n.499-8G>T
NM_013411.4:c.499-8G>T	NP_037543.1:n.499-8G>T
NM_013411.5:c.499-8G>T	NP_037543.1:n.499-8G>T
NR_037591.1:n.700-8G>T
NR_037592.1:n.700-8G>T
NR_134976.1:n.487-8G>T
NR_134976.2:n.459-8G>T
NR_134976.3:n.459-8G>T
ENST00000354858.10:c.499-8G>T	ENSP00000346921.6:n.499-8G>T
ENST00000354858.11:c.373-8G>T	ENSP00000346921.7:n.373-8G>T
ENST00000373449.6:c.499-8G>T	ENSP00000362548.2:n.499-8G>T
ENST00000373449.7:c.499-8G>T	ENSP00000362548.2:n.499-8G>T
ENST00000467905.5:c.499-8G>T	ENSP00000447082.1:n.499-8G>T
ENST00000469238.2:n.1643G>T
ENST00000480134.5:c.*2-8G>T	ENSP00000450109.1:n.*2-8G>T
ENST00000491241.2:c.*488-8G>T	ENSP00000512049.1:n.*488-8G>T
ENST00000548033.5:c.373-8G>T	ENSP00000449003.1:n.373-8G>T
ENST00000550338.5:c.*488-8G>T	ENSP00000450008.1:n.*488-8G>T
ENST00000550338.6:c.*488-8G>T	ENSP00000450008.1:n.*488-8G>T
ENST00000629371.2:c.*2-8G>T	ENSP00000486507.1:n.*2-8G>T
ENST00000672308.1:n.534-8G>T
ENST00000695598.1:n.1638-8G>T
ENST00000695599.1:c.*5381-8G>T	ENSP00000512046.1:n.*5381-8G>T
ENST00000695600.1:n.1805G>T
ENST00000695601.1:c.*488-8G>T	ENSP00000512047.1:n.*488-8G>T
ENST00000695602.1:c.*488-8G>T	ENSP00000512048.1:n.*488-8G>T
ENST00000695603.1:n.1643G>T
ENST00000695604.1:c.*305-8G>T	ENSP00000512050.1:n.*305-8G>T
XM_011540967.1:c.*2-8G>T	XP_011539269.1:n.*2-8G>T
XR_001737036.1:n.444-8G>T
XR_246248.1:n.539-8G>T
XR_246248.2:n.539-8G>T
XR_946575.1:n.444-8G>T