Canonical Allele Identifier: CA417066491

Gene: AK2

Linked Data

• MyVariant Identifiers: chr1:g.33478866T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013265T>G , CM000663.2:g.33013265T>G	GRCh38
NC_000001.10:g.33478866T>G , CM000663.1:g.33478866T>G	GRCh37
NC_000001.9:g.33251453T>G	NCBI36
NG_016269.1:g.28627A>C , LRG_133:g.28627A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000469238.2:n.1788A>C
ENST00000491241.2:c.*625A>C	ENSP00000512049.1:n.*625A>C
ENST00000550338.6:c.*625A>C	ENSP00000450008.1:n.*625A>C
ENST00000695598.1:n.1775A>C
ENST00000695599.1:c.*5518A>C	ENSP00000512046.1:n.*5518A>C
ENST00000695600.1:n.1950A>C
ENST00000695601.1:c.*625A>C	ENSP00000512047.1:n.*625A>C
ENST00000695602.1:c.*625A>C	ENSP00000512048.1:n.*625A>C
ENST00000695603.1:n.1788A>C
ENST00000695604.1:c.*442A>C	ENSP00000512050.1:n.*442A>C
ENST00000354858.11:c.510A>C	ENSP00000346921.7:p.Ala170=
ENST00000373449.7:c.636A>C	ENSP00000362548.2:p.Ala212=
ENST00000672308.1:n.671A>C
ENST00000672715.1:c.636A>C MANE Select	ENSP00000499935.1:p.Ala212=
ENST00000354858.10:c.636A>C	ENSP00000346921.6:p.Ala212=
ENST00000373449.6:c.636A>C	ENSP00000362548.2:p.Ala212=
ENST00000467905.5:c.636A>C	ENSP00000447082.1:p.Ala212=
ENST00000480134.5:c.*139A>C	ENSP00000450109.1:n.*139A>C
ENST00000491241.1:n.23A>C
ENST00000548033.5:c.510A>C	ENSP00000449003.1:p.Ala170=
ENST00000550338.5:c.*625A>C	ENSP00000450008.1:n.*625A>C
ENST00000629371.2:c.*139A>C	ENSP00000486507.1:n.*139A>C
NM_001199199.1:c.612A>C	NP_001186128.1:p.Ala204=
NM_001625.3:c.636A>C	NP_001616.1:p.Ala212=
NM_013411.4:c.636A>C	NP_037543.1:p.Ala212=
NR_037591.1:n.837A>C
NR_037592.1:n.837A>C
XM_011540967.1:c.*139A>C	XP_011539269.1:n.*139A>C
XR_246248.1:n.676A>C
XR_946575.1:n.581A>C
NM_001319139.1:c.492A>C	NP_001306068.1:p.Ala164=
NM_001319140.1:c.492A>C	NP_001306069.1:p.Ala164=
NM_001319141.1:c.636A>C	NP_001306070.1:p.Ala212=
NM_001319142.1:c.510A>C	NP_001306071.1:p.Ala170=
NM_001319143.1:c.*139A>C	NP_001306072.1:n.*139A>C
NR_134976.1:n.624A>C
XR_001737036.1:n.581A>C
XR_246248.2:n.676A>C
NM_001199199.2:c.612A>C	NP_001186128.1:p.Ala204=
NM_001319139.2:c.492A>C	NP_001306068.1:p.Ala164=
NM_001319141.2:c.636A>C	NP_001306070.1:p.Ala212=
NM_001319142.2:c.510A>C	NP_001306071.1:p.Ala170=
NM_001625.4:c.636A>C MANE Select	NP_001616.1:p.Ala212=
NM_013411.5:c.636A>C	NP_037543.1:p.Ala212=
NR_134976.2:n.596A>C
NM_001199199.3:c.612A>C	NP_001186128.1:p.Ala204=
NM_001319139.3:c.492A>C	NP_001306068.1:p.Ala164=
NM_001319140.2:c.492A>C	NP_001306069.1:p.Ala164=
NM_001319141.3:c.636A>C	NP_001306070.1:p.Ala212=
NM_001319142.3:c.510A>C	NP_001306071.1:p.Ala170=
NM_001319143.2:c.*139A>C	NP_001306072.1:n.*139A>C
NR_134976.3:n.596A>C