Canonical Allele Identifier: CA339699537

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013377C>G , CM000663.2:g.33013377C>G	GRCh38
NC_000001.10:g.33478978C>G , CM000663.1:g.33478978C>G	GRCh37
NC_000001.9:g.33251565C>G	NCBI36
NG_016269.1:g.28515G>C , LRG_133:g.28515G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001625.4:c.524G>C MANE Select	NP_001616.1:p.Arg175Pro
ENST00000672715.1:c.524G>C MANE Select	ENSP00000499935.1:p.Arg175Pro
NM_001199199.1:c.500G>C	NP_001186128.1:p.Arg167Pro
NM_001199199.2:c.500G>C	NP_001186128.1:p.Arg167Pro
NM_001199199.3:c.500G>C	NP_001186128.1:p.Arg167Pro
NM_001319139.1:c.380G>C	NP_001306068.1:p.Arg127Pro
NM_001319139.2:c.380G>C	NP_001306068.1:p.Arg127Pro
NM_001319139.3:c.380G>C	NP_001306068.1:p.Arg127Pro
NM_001319140.1:c.380G>C	NP_001306069.1:p.Arg127Pro
NM_001319140.2:c.380G>C	NP_001306069.1:p.Arg127Pro
NM_001319141.1:c.524G>C	NP_001306070.1:p.Arg175Pro
NM_001319141.2:c.524G>C	NP_001306070.1:p.Arg175Pro
NM_001319141.3:c.524G>C	NP_001306070.1:p.Arg175Pro
NM_001319142.1:c.398G>C	NP_001306071.1:p.Arg133Pro
NM_001319142.2:c.398G>C	NP_001306071.1:p.Arg133Pro
NM_001319142.3:c.398G>C	NP_001306071.1:p.Arg133Pro
NM_001319143.1:c.*27G>C	NP_001306072.1:n.*27G>C
NM_001319143.2:c.*27G>C	NP_001306072.1:n.*27G>C
NM_001625.3:c.524G>C	NP_001616.1:p.Arg175Pro
NM_013411.4:c.524G>C	NP_037543.1:p.Arg175Pro
NM_013411.5:c.524G>C	NP_037543.1:p.Arg175Pro
NR_037591.1:n.725G>C
NR_037592.1:n.725G>C
NR_134976.1:n.512G>C
NR_134976.2:n.484G>C
NR_134976.3:n.484G>C
ENST00000354858.10:c.524G>C	ENSP00000346921.6:p.Arg175Pro
ENST00000354858.11:c.398G>C	ENSP00000346921.7:p.Arg133Pro
ENST00000373449.6:c.524G>C	ENSP00000362548.2:p.Arg175Pro
ENST00000373449.7:c.524G>C	ENSP00000362548.2:p.Arg175Pro
ENST00000467905.5:c.524G>C	ENSP00000447082.1:p.Arg175Pro
ENST00000469238.2:n.1676G>C
ENST00000480134.5:c.*27G>C	ENSP00000450109.1:n.*27G>C
ENST00000491241.2:c.*513G>C	ENSP00000512049.1:n.*513G>C
ENST00000548033.5:c.398G>C	ENSP00000449003.1:p.Arg133Pro
ENST00000550338.5:c.*513G>C	ENSP00000450008.1:n.*513G>C
ENST00000550338.6:c.*513G>C	ENSP00000450008.1:n.*513G>C
ENST00000629371.2:c.*27G>C	ENSP00000486507.1:n.*27G>C
ENST00000672308.1:n.559G>C
ENST00000695598.1:n.1663G>C
ENST00000695599.1:c.*5406G>C	ENSP00000512046.1:n.*5406G>C
ENST00000695600.1:n.1838G>C
ENST00000695601.1:c.*513G>C	ENSP00000512047.1:n.*513G>C
ENST00000695602.1:c.*513G>C	ENSP00000512048.1:n.*513G>C
ENST00000695603.1:n.1676G>C
ENST00000695604.1:c.*330G>C	ENSP00000512050.1:n.*330G>C
XM_011540967.1:c.*27G>C	XP_011539269.1:n.*27G>C
XR_001737036.1:n.469G>C
XR_246248.1:n.564G>C
XR_246248.2:n.564G>C
XR_946575.1:n.469G>C