Canonical Allele Identifier: CA20307267

Gene: AK2

Linked Data

• dbSNP Id: rs748704212
• MyVariant Identifiers: chr1:g.33478963T>A (hg19) ; chr1:g.33013362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013362T>A , CM000663.2:g.33013362T>A	GRCh38
NC_000001.10:g.33478963T>A , CM000663.1:g.33478963T>A	GRCh37
NC_000001.9:g.33251550T>A	NCBI36
NG_016269.1:g.28530A>T , LRG_133:g.28530A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000469238.2:n.1691A>T
ENST00000491241.2:c.*528A>T	ENSP00000512049.1:n.*528A>T
ENST00000550338.6:c.*528A>T	ENSP00000450008.1:n.*528A>T
ENST00000695598.1:n.1678A>T
ENST00000695599.1:c.*5421A>T	ENSP00000512046.1:n.*5421A>T
ENST00000695600.1:n.1853A>T
ENST00000695601.1:c.*528A>T	ENSP00000512047.1:n.*528A>T
ENST00000695602.1:c.*528A>T	ENSP00000512048.1:n.*528A>T
ENST00000695603.1:n.1691A>T
ENST00000695604.1:c.*345A>T	ENSP00000512050.1:n.*345A>T
ENST00000354858.11:c.413A>T	ENSP00000346921.7:p.Glu138Val
ENST00000373449.7:c.539A>T	ENSP00000362548.2:p.Glu180Val
ENST00000672308.1:n.574A>T
ENST00000672715.1:c.539A>T MANE Select	ENSP00000499935.1:p.Glu180Val
ENST00000354858.10:c.539A>T	ENSP00000346921.6:p.Glu180Val
ENST00000373449.6:c.539A>T	ENSP00000362548.2:p.Glu180Val
ENST00000467905.5:c.539A>T	ENSP00000447082.1:p.Glu180Val
ENST00000480134.5:c.*42A>T	ENSP00000450109.1:n.*42A>T
ENST00000548033.5:c.413A>T	ENSP00000449003.1:p.Glu138Val
ENST00000550338.5:c.*528A>T	ENSP00000450008.1:n.*528A>T
ENST00000629371.2:c.*42A>T	ENSP00000486507.1:n.*42A>T
NM_001199199.1:c.515A>T	NP_001186128.1:p.Glu172Val
NM_001625.3:c.539A>T	NP_001616.1:p.Glu180Val
NM_013411.4:c.539A>T	NP_037543.1:p.Glu180Val
NR_037591.1:n.740A>T
NR_037592.1:n.740A>T
XM_011540967.1:c.*42A>T	XP_011539269.1:n.*42A>T
XR_246248.1:n.579A>T
XR_946575.1:n.484A>T
NM_001319139.1:c.395A>T	NP_001306068.1:p.Glu132Val
NM_001319140.1:c.395A>T	NP_001306069.1:p.Glu132Val
NM_001319141.1:c.539A>T	NP_001306070.1:p.Glu180Val
NM_001319142.1:c.413A>T	NP_001306071.1:p.Glu138Val
NM_001319143.1:c.*42A>T	NP_001306072.1:n.*42A>T
NR_134976.1:n.527A>T
XR_001737036.1:n.484A>T
XR_246248.2:n.579A>T
NM_001199199.2:c.515A>T	NP_001186128.1:p.Glu172Val
NM_001319139.2:c.395A>T	NP_001306068.1:p.Glu132Val
NM_001319141.2:c.539A>T	NP_001306070.1:p.Glu180Val
NM_001319142.2:c.413A>T	NP_001306071.1:p.Glu138Val
NM_001625.4:c.539A>T MANE Select	NP_001616.1:p.Glu180Val
NM_013411.5:c.539A>T	NP_037543.1:p.Glu180Val
NR_134976.2:n.499A>T
NM_001199199.3:c.515A>T	NP_001186128.1:p.Glu172Val
NM_001319139.3:c.395A>T	NP_001306068.1:p.Glu132Val
NM_001319140.2:c.395A>T	NP_001306069.1:p.Glu132Val
NM_001319141.3:c.539A>T	NP_001306070.1:p.Glu180Val
NM_001319142.3:c.413A>T	NP_001306071.1:p.Glu138Val
NM_001319143.2:c.*42A>T	NP_001306072.1:n.*42A>T
NR_134976.3:n.499A>T