Canonical Allele Identifier: CA658653735

Gene: AK2

Linked Data

• ClinVar Variation Id: 18250
• ClinVar RCV Id: RCV000019912
• PubMed: PMID:19043417

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33008231_33013268del , CM000663.2:g.33008231_33013268del	GRCh38
NC_000001.10:g.33473832_33478869del , CM000663.1:g.33473832_33478869del	GRCh37
NC_000001.9:g.33246419_33251456del	NCBI36
NG_016269.1:g.28627_33664del , LRG_133:g.28627_33664del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373449.7:c.636_*2601del
ENST00000672715.1:c.636_*4953del MANE Select	ENSP00000499935.1:n.[c.636_*4953del;Ser213AspfsTer21]
ENST00000373449.6:c.636_*2601del
ENST00000629371.2:c.*139_*2803del
NM_001199199.1:c.612_*2601del
NM_013411.4:c.636_*2601del
NR_037591.1:n.837_3501del
NM_001319139.1:c.492_*2601del
NM_001319141.1:c.636_*2650del
NM_001319142.1:c.510_*2601del
NR_134976.1:n.624_3288del
NM_001199199.2:c.612_*2601del
NM_001319139.2:c.492_*2601del
NM_001319141.2:c.636_*2650del
NM_001319142.2:c.510_*2601del
NM_001625.4:c.636_*4953del MANE Select	NP_001616.1:n.[c.636_*4953del;Ser213AspfsTer21]
NM_013411.5:c.636_*2601del
NR_134976.2:n.596_3260del
NM_001199199.3:c.612_*2601del
NM_001319139.3:c.492_*2601del
NM_001319140.2:c.492_*4953del	NP_001306069.1:n.[c.492_*4953del;Ser165AspfsTer21]
NM_001319141.3:c.636_*2650del
NM_001319142.3:c.510_*2601del
NM_001319143.2:c.*139_*5176del	NP_001306072.1:n.*139_*5176del
NR_134976.3:n.596_3260del