Canonical Allele Identifier: CA339699311

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013301G>C , CM000663.2:g.33013301G>C	GRCh38
NC_000001.10:g.33478902G>C , CM000663.1:g.33478902G>C	GRCh37
NC_000001.9:g.33251489G>C	NCBI36
NG_016269.1:g.28591C>G , LRG_133:g.28591C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001625.4:c.600C>G MANE Select	NP_001616.1:p.Tyr200Ter
ENST00000672715.1:c.600C>G MANE Select	ENSP00000499935.1:p.Tyr200Ter
NM_001199199.1:c.576C>G	NP_001186128.1:p.Tyr192Ter
NM_001199199.2:c.576C>G	NP_001186128.1:p.Tyr192Ter
NM_001199199.3:c.576C>G	NP_001186128.1:p.Tyr192Ter
NM_001319139.1:c.456C>G	NP_001306068.1:p.Tyr152Ter
NM_001319139.2:c.456C>G	NP_001306068.1:p.Tyr152Ter
NM_001319139.3:c.456C>G	NP_001306068.1:p.Tyr152Ter
NM_001319140.1:c.456C>G	NP_001306069.1:p.Tyr152Ter
NM_001319140.2:c.456C>G	NP_001306069.1:p.Tyr152Ter
NM_001319141.1:c.600C>G	NP_001306070.1:p.Tyr200Ter
NM_001319141.2:c.600C>G	NP_001306070.1:p.Tyr200Ter
NM_001319141.3:c.600C>G	NP_001306070.1:p.Tyr200Ter
NM_001319142.1:c.474C>G	NP_001306071.1:p.Tyr158Ter
NM_001319142.2:c.474C>G	NP_001306071.1:p.Tyr158Ter
NM_001319142.3:c.474C>G	NP_001306071.1:p.Tyr158Ter
NM_001319143.1:c.*103C>G	NP_001306072.1:n.*103C>G
NM_001319143.2:c.*103C>G	NP_001306072.1:n.*103C>G
NM_001625.3:c.600C>G	NP_001616.1:p.Tyr200Ter
NM_013411.4:c.600C>G	NP_037543.1:p.Tyr200Ter
NM_013411.5:c.600C>G	NP_037543.1:p.Tyr200Ter
NR_037591.1:n.801C>G
NR_037592.1:n.801C>G
NR_134976.1:n.588C>G
NR_134976.2:n.560C>G
NR_134976.3:n.560C>G
ENST00000354858.10:c.600C>G	ENSP00000346921.6:p.Tyr200Ter
ENST00000354858.11:c.474C>G	ENSP00000346921.7:p.Tyr158Ter
ENST00000373449.6:c.600C>G	ENSP00000362548.2:p.Tyr200Ter
ENST00000373449.7:c.600C>G	ENSP00000362548.2:p.Tyr200Ter
ENST00000467905.5:c.600C>G	ENSP00000447082.1:p.Tyr200Ter
ENST00000469238.2:n.1752C>G
ENST00000480134.5:c.*103C>G	ENSP00000450109.1:n.*103C>G
ENST00000491241.2:c.*589C>G	ENSP00000512049.1:n.*589C>G
ENST00000548033.5:c.474C>G	ENSP00000449003.1:p.Tyr158Ter
ENST00000550338.5:c.*589C>G	ENSP00000450008.1:n.*589C>G
ENST00000550338.6:c.*589C>G	ENSP00000450008.1:n.*589C>G
ENST00000629371.2:c.*103C>G	ENSP00000486507.1:n.*103C>G
ENST00000672308.1:n.635C>G
ENST00000695598.1:n.1739C>G
ENST00000695599.1:c.*5482C>G	ENSP00000512046.1:n.*5482C>G
ENST00000695600.1:n.1914C>G
ENST00000695601.1:c.*589C>G	ENSP00000512047.1:n.*589C>G
ENST00000695602.1:c.*589C>G	ENSP00000512048.1:n.*589C>G
ENST00000695603.1:n.1752C>G
ENST00000695604.1:c.*406C>G	ENSP00000512050.1:n.*406C>G
XM_011540967.1:c.*103C>G	XP_011539269.1:n.*103C>G
XR_001737036.1:n.545C>G
XR_246248.1:n.640C>G
XR_246248.2:n.640C>G
XR_946575.1:n.545C>G