Canonical Allele Identifier: CA1730998

Gene: HK2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74854353C>T , CM000664.2:g.74854353C>T	GRCh38
NC_000002.11:g.75081480C>T , CM000664.1:g.75081480C>T	GRCh37
NC_000002.10:g.74934988C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000189.5:c.124C>T MANE Select	NP_000180.2:p.Arg42Trp
ENST00000290573.7:c.124C>T MANE Select	ENSP00000290573.2:p.Arg42Trp
NM_000189.4:c.124C>T	NP_000180.2:p.Arg42Trp
NM_001371525.1:c.40C>T	NP_001358454.1:p.Arg14Trp
ENST00000290573.6:c.124C>T	ENSP00000290573.2:p.Arg42Trp
ENST00000409174.1:c.40C>T	ENSP00000387140.1:p.Arg14Trp
ENST00000472302.1:n.21C>T
XM_005264280.1:c.124C>T	XP_005264337.1:p.Arg42Trp
XM_005264280.2:c.124C>T	XP_005264337.1:p.Arg42Trp
XM_011532807.1:c.124C>T	XP_011531109.1:p.Arg42Trp
XM_011532807.2:c.124C>T	XP_011531109.1:p.Arg42Trp
XM_017003945.2:c.124C>T	XP_016859434.1:p.Arg42Trp