Canonical Allele Identifier: CA747227

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33024423T>C , CM000663.2:g.33024423T>C	GRCh38
NC_000001.10:g.33490024T>C , CM000663.1:g.33490024T>C	GRCh37
NC_000001.9:g.33262611T>C	NCBI36
NG_016269.1:g.17469A>G , LRG_133:g.17469A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001625.4:c.219+19A>G MANE Select	NP_001616.1:n.219+19A>G
ENST00000672715.1:c.219+19A>G MANE Select	ENSP00000499935.1:n.219+19A>G
NM_001199199.1:c.219+19A>G	NP_001186128.1:n.219+19A>G
NM_001199199.2:c.219+19A>G	NP_001186128.1:n.219+19A>G
NM_001199199.3:c.219+19A>G	NP_001186128.1:n.219+19A>G
NM_001319139.1:c.75+19A>G	NP_001306068.1:n.75+19A>G
NM_001319139.2:c.75+19A>G	NP_001306068.1:n.75+19A>G
NM_001319139.3:c.75+19A>G	NP_001306068.1:n.75+19A>G
NM_001319140.1:c.75+19A>G	NP_001306069.1:n.75+19A>G
NM_001319140.2:c.75+19A>G	NP_001306069.1:n.75+19A>G
NM_001319141.1:c.219+19A>G	NP_001306070.1:n.219+19A>G
NM_001319141.2:c.219+19A>G	NP_001306070.1:n.219+19A>G
NM_001319141.3:c.219+19A>G	NP_001306070.1:n.219+19A>G
NM_001319142.1:c.94-2720A>G	NP_001306071.1:n.94-2720A>G
NM_001319142.2:c.94-2720A>G	NP_001306071.1:n.94-2720A>G
NM_001319142.3:c.94-2720A>G	NP_001306071.1:n.94-2720A>G
NM_001319143.1:c.219+19A>G	NP_001306072.1:n.219+19A>G
NM_001319143.2:c.219+19A>G	NP_001306072.1:n.219+19A>G
NM_001625.3:c.219+19A>G	NP_001616.1:n.219+19A>G
NM_013411.4:c.219+19A>G	NP_037543.1:n.219+19A>G
NM_013411.5:c.219+19A>G	NP_037543.1:n.219+19A>G
NR_037591.1:n.420+19A>G
NR_037592.1:n.420+19A>G
NR_134976.1:n.302+19A>G
NR_134976.2:n.274+19A>G
NR_134976.3:n.274+19A>G
ENST00000354858.10:c.219+19A>G	ENSP00000346921.6:n.219+19A>G
ENST00000354858.11:c.94-2720A>G	ENSP00000346921.7:n.94-2720A>G
ENST00000373449.6:c.219+19A>G	ENSP00000362548.2:n.219+19A>G
ENST00000373449.7:c.219+19A>G	ENSP00000362548.2:n.219+19A>G
ENST00000467905.5:c.219+19A>G	ENSP00000447082.1:n.219+19A>G
ENST00000469238.2:n.252+19A>G
ENST00000480134.5:c.219+19A>G	ENSP00000450109.1:n.219+19A>G
ENST00000487289.1:c.219+19A>G	ENSP00000446849.1:n.219+19A>G
ENST00000491241.2:c.*208+19A>G	ENSP00000512049.1:n.*208+19A>G
ENST00000548033.5:c.94-2720A>G	ENSP00000449003.1:n.94-2720A>G
ENST00000548559.1:n.433+19A>G
ENST00000550338.5:c.*208+19A>G	ENSP00000450008.1:n.*208+19A>G
ENST00000550338.6:c.*208+19A>G	ENSP00000450008.1:n.*208+19A>G
ENST00000551979.1:n.278A>G
ENST00000629371.2:c.219+19A>G	ENSP00000486507.1:n.219+19A>G
ENST00000672308.1:n.254+19A>G
ENST00000673291.1:c.219+19A>G	ENSP00000500549.1:n.219+19A>G
ENST00000695598.1:n.1358+19A>G
ENST00000695599.1:c.*5101+19A>G	ENSP00000512046.1:n.*5101+19A>G
ENST00000695600.1:n.414+19A>G
ENST00000695601.1:c.*208+19A>G	ENSP00000512047.1:n.*208+19A>G
ENST00000695602.1:c.*208+19A>G	ENSP00000512048.1:n.*208+19A>G
ENST00000695603.1:n.252+19A>G
ENST00000695604.1:c.219+19A>G	ENSP00000512050.1:n.219+19A>G
ENST00000695605.1:c.*208+19A>G	ENSP00000512051.1:n.*208+19A>G
XM_011540967.1:c.219+19A>G	XP_011539269.1:n.219+19A>G
XR_001737036.1:n.259+19A>G
XR_246248.1:n.259+19A>G
XR_246248.2:n.259+19A>G
XR_946575.1:n.259+19A>G