Canonical Allele Identifier: CA289345

Gene: AK2

Linked Data

• ClinVar Variation Id: 136329
• ClinVar RCV Id: RCV000123574
• dbSNP Id: rs587780848
• MyVariant Identifiers: chr1:g.33490043C>G (hg19) ; chr1:g.33024442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33024442C>G , CM000663.2:g.33024442C>G	GRCh38
NC_000001.10:g.33490043C>G , CM000663.1:g.33490043C>G	GRCh37
NC_000001.9:g.33262630C>G	NCBI36
NG_016269.1:g.17450G>C , LRG_133:g.17450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469238.2:n.252G>C
ENST00000491241.2:c.*208G>C	ENSP00000512049.1:n.*208G>C
ENST00000550338.6:c.*208G>C	ENSP00000450008.1:n.*208G>C
ENST00000695598.1:n.1358G>C
ENST00000695599.1:c.*5101G>C	ENSP00000512046.1:n.*5101G>C
ENST00000695600.1:n.414G>C
ENST00000695601.1:c.*208G>C	ENSP00000512047.1:n.*208G>C
ENST00000695602.1:c.*208G>C	ENSP00000512048.1:n.*208G>C
ENST00000695603.1:n.252G>C
ENST00000695604.1:c.219G>C	ENSP00000512050.1:p.Leu73=
ENST00000695605.1:c.*208G>C	ENSP00000512051.1:n.*208G>C
ENST00000354858.11:c.94-2739G>C	ENSP00000346921.7:n.94-2739G>C
ENST00000373449.7:c.219G>C	ENSP00000362548.2:p.Leu73=
ENST00000672308.1:n.254G>C
ENST00000672715.1:c.219G>C MANE Select	ENSP00000499935.1:p.Leu73=
ENST00000673291.1:c.219G>C	ENSP00000500549.1:p.Leu73=
ENST00000354858.10:c.219G>C	ENSP00000346921.6:p.Leu73=
ENST00000373449.6:c.219G>C	ENSP00000362548.2:p.Leu73=
ENST00000467905.5:c.219G>C	ENSP00000447082.1:p.Leu73=
ENST00000480134.5:c.219G>C	ENSP00000450109.1:p.Leu73=
ENST00000487289.1:c.219G>C	ENSP00000446849.1:p.Leu73=
ENST00000548033.5:c.94-2739G>C	ENSP00000449003.1:n.94-2739G>C
ENST00000548559.1:n.433G>C
ENST00000550338.5:c.*208G>C	ENSP00000450008.1:n.*208G>C
ENST00000551979.1:n.259G>C
ENST00000629371.2:c.219G>C	ENSP00000486507.1:p.Leu73=
NM_001199199.1:c.219G>C	NP_001186128.1:p.Leu73=
NM_001625.3:c.219G>C	NP_001616.1:p.Leu73=
NM_013411.4:c.219G>C	NP_037543.1:p.Leu73=
NR_037591.1:n.420G>C
NR_037592.1:n.420G>C
XM_011540967.1:c.219G>C	XP_011539269.1:p.Leu73=
XR_246248.1:n.259G>C
XR_946575.1:n.259G>C
NM_001319139.1:c.75G>C	NP_001306068.1:p.Leu25=
NM_001319140.1:c.75G>C	NP_001306069.1:p.Leu25=
NM_001319141.1:c.219G>C	NP_001306070.1:p.Leu73=
NM_001319142.1:c.94-2739G>C	NP_001306071.1:n.94-2739G>C
NM_001319143.1:c.219G>C	NP_001306072.1:p.Leu73=
NR_134976.1:n.302G>C
XR_001737036.1:n.259G>C
XR_246248.2:n.259G>C
NM_001199199.2:c.219G>C	NP_001186128.1:p.Leu73=
NM_001319139.2:c.75G>C	NP_001306068.1:p.Leu25=
NM_001319141.2:c.219G>C	NP_001306070.1:p.Leu73=
NM_001319142.2:c.94-2739G>C	NP_001306071.1:n.94-2739G>C
NM_001625.4:c.219G>C MANE Select	NP_001616.1:p.Leu73=
NM_013411.5:c.219G>C	NP_037543.1:p.Leu73=
NR_134976.2:n.274G>C
NM_001199199.3:c.219G>C	NP_001186128.1:p.Leu73=
NM_001319139.3:c.75G>C	NP_001306068.1:p.Leu25=
NM_001319140.2:c.75G>C	NP_001306069.1:p.Leu25=
NM_001319141.3:c.219G>C	NP_001306070.1:p.Leu73=
NM_001319142.3:c.94-2739G>C	NP_001306071.1:n.94-2739G>C
NM_001319143.2:c.219G>C	NP_001306072.1:p.Leu73=
NR_134976.3:n.274G>C