Canonical Allele Identifier: CA10613040

Gene: KHK

Linked Data

• ClinVar Variation Id: 335494
• ClinVar RCV Id: RCV000390777
• dbSNP Id: rs886055888
• MyVariant Identifiers: chr2:g.27320510G>A (hg19) ; chr2:g.27097642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27097642G>A , CM000664.2:g.27097642G>A	GRCh38
NC_000002.11:g.27320510G>A , CM000664.1:g.27320510G>A	GRCh37
NC_000002.10:g.27174014G>A	NCBI36
NG_012199.1:g.15900G>A
NG_012199.2:g.15900G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260599.11:c.557G>A	ENSP00000260599.6:p.Gly186Glu
ENST00000429697.2:c.692G>A	ENSP00000404741.2:p.Gly231Glu
ENST00000260598.10:c.557G>A MANE Select	ENSP00000260598.5:p.Gly186Glu
ENST00000260598.9:c.557G>A	ENSP00000260598.5:p.Gly186Glu
ENST00000260599.10:c.557G>A	ENSP00000260599.6:p.Gly186Glu
ENST00000429697.1:c.692G>A	ENSP00000404741.1:p.Gly231Glu
ENST00000464371.1:n.483G>A
ENST00000490823.5:n.905G>A
NM_000221.2:c.557G>A	NP_000212.1:p.Gly186Glu
NM_006488.2:c.557G>A	NP_006479.1:p.Gly186Glu
XM_005264294.2:c.695G>A	XP_005264351.1:p.Gly232Glu
XM_005264296.2:c.560G>A	XP_005264353.1:p.Gly187Glu
XM_005264298.2:c.305G>A	XP_005264355.1:p.Gly102Glu
XM_006712008.2:c.695G>A	XP_006712071.1:p.Gly232Glu
XM_006712009.2:c.692G>A	XP_006712072.1:p.Gly231Glu
XM_006712010.2:c.560G>A	XP_006712073.1:p.Gly187Glu
XM_006712011.2:c.557G>A	XP_006712074.1:p.Gly186Glu
XM_006712012.2:c.557G>A	XP_006712075.1:p.Gly186Glu
XM_006712013.2:c.422G>A	XP_006712076.1:p.Gly141Glu
XM_006712014.2:c.305G>A	XP_006712077.1:p.Gly102Glu
XM_005264294.4:c.695G>A	XP_005264351.1:p.Gly232Glu
XM_005264296.4:c.560G>A	XP_005264353.1:p.Gly187Glu
XM_005264298.4:c.305G>A	XP_005264355.1:p.Gly102Glu
XM_006712008.4:c.695G>A	XP_006712071.1:p.Gly232Glu
XM_006712009.4:c.692G>A	XP_006712072.1:p.Gly231Glu
XM_006712010.4:c.560G>A	XP_006712073.1:p.Gly187Glu
XM_006712011.4:c.557G>A	XP_006712074.1:p.Gly186Glu
XM_006712012.4:c.557G>A	XP_006712075.1:p.Gly186Glu
XM_006712013.4:c.422G>A	XP_006712076.1:p.Gly141Glu
XM_006712014.4:c.305G>A	XP_006712077.1:p.Gly102Glu
XM_017004060.2:c.692G>A	XP_016859549.1:p.Gly231Glu
XM_017004061.2:c.422G>A	XP_016859550.1:p.Gly141Glu
NM_006488.3:c.557G>A MANE Select	NP_006479.1:p.Gly186Glu
NM_000221.3:c.557G>A	NP_000212.1:p.Gly186Glu