Canonical Allele Identifier: CA339701971

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33021383G>A , CM000663.2:g.33021383G>A	GRCh38
NC_000001.10:g.33486984G>A , CM000663.1:g.33486984G>A	GRCh37
NC_000001.9:g.33259571G>A	NCBI36
NG_016269.1:g.20509C>T , LRG_133:g.20509C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001625.4:c.409C>T MANE Select	NP_001616.1:p.Arg137Ter
ENST00000672715.1:c.409C>T MANE Select	ENSP00000499935.1:p.Arg137Ter
NM_001199199.1:c.401+8C>T	NP_001186128.1:n.401+8C>T
NM_001199199.2:c.401+8C>T	NP_001186128.1:n.401+8C>T
NM_001199199.3:c.401+8C>T	NP_001186128.1:n.401+8C>T
NM_001319139.1:c.265C>T	NP_001306068.1:p.Arg89Ter
NM_001319139.2:c.265C>T	NP_001306068.1:p.Arg89Ter
NM_001319139.3:c.265C>T	NP_001306068.1:p.Arg89Ter
NM_001319140.1:c.265C>T	NP_001306069.1:p.Arg89Ter
NM_001319140.2:c.265C>T	NP_001306069.1:p.Arg89Ter
NM_001319141.1:c.409C>T	NP_001306070.1:p.Arg137Ter
NM_001319141.2:c.409C>T	NP_001306070.1:p.Arg137Ter
NM_001319141.3:c.409C>T	NP_001306070.1:p.Arg137Ter
NM_001319142.1:c.283C>T	NP_001306071.1:p.Arg95Ter
NM_001319142.2:c.283C>T	NP_001306071.1:p.Arg95Ter
NM_001319142.3:c.283C>T	NP_001306071.1:p.Arg95Ter
NM_001319143.1:c.330+210C>T	NP_001306072.1:n.330+210C>T
NM_001319143.2:c.330+210C>T	NP_001306072.1:n.330+210C>T
NM_001625.3:c.409C>T	NP_001616.1:p.Arg137Ter
NM_013411.4:c.409C>T	NP_037543.1:p.Arg137Ter
NM_013411.5:c.409C>T	NP_037543.1:p.Arg137Ter
NR_037591.1:n.610C>T
NR_037592.1:n.610C>T
NR_134976.1:n.413+210C>T
NR_134976.2:n.385+210C>T
NR_134976.3:n.385+210C>T
ENST00000354858.10:c.409C>T	ENSP00000346921.6:p.Arg137Ter
ENST00000354858.11:c.283C>T	ENSP00000346921.7:p.Arg95Ter
ENST00000373449.6:c.409C>T	ENSP00000362548.2:p.Arg137Ter
ENST00000373449.7:c.409C>T	ENSP00000362548.2:p.Arg137Ter
ENST00000466029.1:n.111+210C>T
ENST00000467905.5:c.409C>T	ENSP00000447082.1:p.Arg137Ter
ENST00000469238.1:n.177C>T
ENST00000469238.2:n.442C>T
ENST00000480134.5:c.330+210C>T	ENSP00000450109.1:n.330+210C>T
ENST00000487289.1:c.409C>T	ENSP00000446849.1:p.Arg137Ter
ENST00000491241.2:c.*398C>T	ENSP00000512049.1:n.*398C>T
ENST00000548033.5:c.283C>T	ENSP00000449003.1:p.Arg95Ter
ENST00000550338.5:c.*398C>T	ENSP00000450008.1:n.*398C>T
ENST00000550338.6:c.*398C>T	ENSP00000450008.1:n.*398C>T
ENST00000629371.2:c.330+210C>T	ENSP00000486507.1:n.330+210C>T
ENST00000672308.1:n.444C>T
ENST00000673291.1:c.409C>T	ENSP00000500549.1:p.Arg137Ter
ENST00000695598.1:n.1548C>T
ENST00000695599.1:c.*5291C>T	ENSP00000512046.1:n.*5291C>T
ENST00000695600.1:n.604C>T
ENST00000695601.1:c.*398C>T	ENSP00000512047.1:n.*398C>T
ENST00000695602.1:c.*398C>T	ENSP00000512048.1:n.*398C>T
ENST00000695603.1:n.442C>T
ENST00000695604.1:c.409C>T	ENSP00000512050.1:p.Arg137Ter
ENST00000695605.1:c.*398C>T	ENSP00000512051.1:n.*398C>T
XM_011540967.1:c.330+210C>T	XP_011539269.1:n.330+210C>T
XR_001737036.1:n.370+210C>T
XR_246248.1:n.449C>T
XR_246248.2:n.449C>T
XR_946575.1:n.370+210C>T