Canonical Allele Identifier: CA8951983

Gene: ARK2C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46456628G>A , CM000680.2:g.46456628G>A	GRCh38
NC_000018.9:g.44036591G>A , CM000680.1:g.44036591G>A	GRCh37
NC_000018.8:g.42290589G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269439.12:c.1033G>A MANE Select	ENSP00000269439.6:p.Asp345Asn
ENST00000269439.11:c.1033G>A	ENSP00000269439.6:p.Asp345Asn
ENST00000543885.2:c.457G>A	ENSP00000444285.1:p.Asp153Asn
ENST00000586604.5:c.*522G>A	ENSP00000468365.1:n.*522G>A
NM_001256758.1:c.457G>A	NP_001243687.1:p.Asp153Asn
NM_152470.2:c.1033G>A	NP_689683.2:p.Asp345Asn
XM_011526016.1:c.937G>A	XP_011524318.1:p.Asp313Asn
XM_011526016.3:c.937G>A	XP_011524318.1:p.Asp313Asn
XM_024451191.1:c.457G>A	XP_024306959.1:p.Asp153Asn
NM_152470.3:c.1033G>A MANE Select	NP_689683.2:p.Asp345Asn