Canonical Allele Identifier: CA339699543
Community Standard Title: NM_001625.4(AK2):c.523C>G (p.Arg175Gly)
Gene: AK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.33013378G>C , CM000663.2:g.33013378G>C GRCh38
NC_000001.10:g.33478979G>C , CM000663.1:g.33478979G>C GRCh37
NC_000001.9:g.33251566G>C NCBI36
NG_016269.1:g.28514C>G , LRG_133:g.28514C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001625.4:c.523C>G MANE Select NP_001616.1:p.Arg175Gly
ENST00000672715.1:c.523C>G MANE Select ENSP00000499935.1:p.Arg175Gly
NM_001199199.1:c.499C>G NP_001186128.1:p.Arg167Gly
NM_001199199.2:c.499C>G NP_001186128.1:p.Arg167Gly
NM_001199199.3:c.499C>G NP_001186128.1:p.Arg167Gly
NM_001319139.1:c.379C>G NP_001306068.1:p.Arg127Gly
NM_001319139.2:c.379C>G NP_001306068.1:p.Arg127Gly
NM_001319139.3:c.379C>G NP_001306068.1:p.Arg127Gly
NM_001319140.1:c.379C>G NP_001306069.1:p.Arg127Gly
NM_001319140.2:c.379C>G NP_001306069.1:p.Arg127Gly
NM_001319141.1:c.523C>G NP_001306070.1:p.Arg175Gly
NM_001319141.2:c.523C>G NP_001306070.1:p.Arg175Gly
NM_001319141.3:c.523C>G NP_001306070.1:p.Arg175Gly
NM_001319142.1:c.397C>G NP_001306071.1:p.Arg133Gly
NM_001319142.2:c.397C>G NP_001306071.1:p.Arg133Gly
NM_001319142.3:c.397C>G NP_001306071.1:p.Arg133Gly
NM_001319143.1:c.*26C>G NP_001306072.1:n.*26C>G
NM_001319143.2:c.*26C>G NP_001306072.1:n.*26C>G
NM_001625.3:c.523C>G NP_001616.1:p.Arg175Gly
NM_013411.4:c.523C>G NP_037543.1:p.Arg175Gly
NM_013411.5:c.523C>G NP_037543.1:p.Arg175Gly
NR_037591.1:n.724C>G
NR_037592.1:n.724C>G
NR_134976.1:n.511C>G
NR_134976.2:n.483C>G
NR_134976.3:n.483C>G
ENST00000354858.10:c.523C>G ENSP00000346921.6:p.Arg175Gly
ENST00000354858.11:c.397C>G ENSP00000346921.7:p.Arg133Gly
ENST00000373449.6:c.523C>G ENSP00000362548.2:p.Arg175Gly
ENST00000373449.7:c.523C>G ENSP00000362548.2:p.Arg175Gly
ENST00000467905.5:c.523C>G ENSP00000447082.1:p.Arg175Gly
ENST00000469238.2:n.1675C>G
ENST00000480134.5:c.*26C>G ENSP00000450109.1:n.*26C>G
ENST00000491241.2:c.*512C>G ENSP00000512049.1:n.*512C>G
ENST00000548033.5:c.397C>G ENSP00000449003.1:p.Arg133Gly
ENST00000550338.5:c.*512C>G ENSP00000450008.1:n.*512C>G
ENST00000550338.6:c.*512C>G ENSP00000450008.1:n.*512C>G
ENST00000629371.2:c.*26C>G ENSP00000486507.1:n.*26C>G
ENST00000672308.1:n.558C>G
ENST00000695598.1:n.1662C>G
ENST00000695599.1:c.*5405C>G ENSP00000512046.1:n.*5405C>G
ENST00000695600.1:n.1837C>G
ENST00000695601.1:c.*512C>G ENSP00000512047.1:n.*512C>G
ENST00000695602.1:c.*512C>G ENSP00000512048.1:n.*512C>G
ENST00000695603.1:n.1675C>G
ENST00000695604.1:c.*329C>G ENSP00000512050.1:n.*329C>G
XM_011540967.1:c.*26C>G XP_011539269.1:n.*26C>G
XR_001737036.1:n.468C>G
XR_246248.1:n.563C>G
XR_246248.2:n.563C>G
XR_946575.1:n.468C>G