Canonical Allele Identifier: CA747168

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33021406C>T , CM000663.2:g.33021406C>T	GRCh38
NC_000001.10:g.33487007C>T , CM000663.1:g.33487007C>T	GRCh37
NC_000001.9:g.33259594C>T	NCBI36
NG_016269.1:g.20486G>A , LRG_133:g.20486G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001625.4:c.386G>A MANE Select	NP_001616.1:p.Ser129Asn
ENST00000672715.1:c.386G>A MANE Select	ENSP00000499935.1:p.Ser129Asn
NM_001199199.1:c.386G>A	NP_001186128.1:p.Ser129Asn
NM_001199199.2:c.386G>A	NP_001186128.1:p.Ser129Asn
NM_001199199.3:c.386G>A	NP_001186128.1:p.Ser129Asn
NM_001319139.1:c.242G>A	NP_001306068.1:p.Ser81Asn
NM_001319139.2:c.242G>A	NP_001306068.1:p.Ser81Asn
NM_001319139.3:c.242G>A	NP_001306068.1:p.Ser81Asn
NM_001319140.1:c.242G>A	NP_001306069.1:p.Ser81Asn
NM_001319140.2:c.242G>A	NP_001306069.1:p.Ser81Asn
NM_001319141.1:c.386G>A	NP_001306070.1:p.Ser129Asn
NM_001319141.2:c.386G>A	NP_001306070.1:p.Ser129Asn
NM_001319141.3:c.386G>A	NP_001306070.1:p.Ser129Asn
NM_001319142.1:c.260G>A	NP_001306071.1:p.Ser87Asn
NM_001319142.2:c.260G>A	NP_001306071.1:p.Ser87Asn
NM_001319142.3:c.260G>A	NP_001306071.1:p.Ser87Asn
NM_001319143.1:c.330+187G>A	NP_001306072.1:n.330+187G>A
NM_001319143.2:c.330+187G>A	NP_001306072.1:n.330+187G>A
NM_001625.3:c.386G>A	NP_001616.1:p.Ser129Asn
NM_013411.4:c.386G>A	NP_037543.1:p.Ser129Asn
NM_013411.5:c.386G>A	NP_037543.1:p.Ser129Asn
NR_037591.1:n.587G>A
NR_037592.1:n.587G>A
NR_134976.1:n.413+187G>A
NR_134976.2:n.385+187G>A
NR_134976.3:n.385+187G>A
ENST00000354858.10:c.386G>A	ENSP00000346921.6:p.Ser129Asn
ENST00000354858.11:c.260G>A	ENSP00000346921.7:p.Ser87Asn
ENST00000373449.6:c.386G>A	ENSP00000362548.2:p.Ser129Asn
ENST00000373449.7:c.386G>A	ENSP00000362548.2:p.Ser129Asn
ENST00000466029.1:n.111+187G>A
ENST00000467905.5:c.386G>A	ENSP00000447082.1:p.Ser129Asn
ENST00000469238.1:n.154G>A
ENST00000469238.2:n.419G>A
ENST00000480134.5:c.330+187G>A	ENSP00000450109.1:n.330+187G>A
ENST00000487289.1:c.386G>A	ENSP00000446849.1:p.Ser129Asn
ENST00000491241.2:c.*375G>A	ENSP00000512049.1:n.*375G>A
ENST00000548033.5:c.260G>A	ENSP00000449003.1:p.Ser87Asn
ENST00000550338.5:c.*375G>A	ENSP00000450008.1:n.*375G>A
ENST00000550338.6:c.*375G>A	ENSP00000450008.1:n.*375G>A
ENST00000629371.2:c.330+187G>A	ENSP00000486507.1:n.330+187G>A
ENST00000672308.1:n.421G>A
ENST00000673291.1:c.386G>A	ENSP00000500549.1:p.Ser129Asn
ENST00000695598.1:n.1525G>A
ENST00000695599.1:c.*5268G>A	ENSP00000512046.1:n.*5268G>A
ENST00000695600.1:n.581G>A
ENST00000695601.1:c.*375G>A	ENSP00000512047.1:n.*375G>A
ENST00000695602.1:c.*375G>A	ENSP00000512048.1:n.*375G>A
ENST00000695603.1:n.419G>A
ENST00000695604.1:c.386G>A	ENSP00000512050.1:p.Ser129Asn
ENST00000695605.1:c.*375G>A	ENSP00000512051.1:n.*375G>A
XM_011540967.1:c.330+187G>A	XP_011539269.1:n.330+187G>A
XR_001737036.1:n.370+187G>A
XR_246248.1:n.426G>A
XR_246248.2:n.426G>A
XR_946575.1:n.370+187G>A