Canonical Allele Identifier: CA1035658

Gene: HAO2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119385006C>A , CM000663.2:g.119385006C>A	GRCh38
NC_000001.10:g.119927629C>A , CM000663.1:g.119927629C>A	GRCh37
NC_000001.9:g.119729152C>A	NCBI36
NG_011967.1:g.21228C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016527.4:c.514C>A MANE Select	NP_057611.1:p.Gln172Lys
ENST00000325945.4:c.514C>A MANE Select	ENSP00000316339.3:p.Gln172Lys
NM_001005783.2:c.553C>A	NP_001005783.2:p.Gln185Lys
NM_001005783.3:c.553C>A	NP_001005783.2:p.Gln185Lys
NM_001377472.1:c.553C>A	NP_001364401.1:p.Gln185Lys
NM_016527.3:c.514C>A	NP_057611.1:p.Gln172Lys
ENST00000325945.3:c.514C>A	ENSP00000316339.3:p.Gln172Lys
ENST00000361035.8:c.553C>A	ENSP00000354314.4:p.Gln185Lys
ENST00000457318.5:c.439C>A	ENSP00000393955.1:p.Gln147Lys
ENST00000622548.4:c.514C>A	ENSP00000483507.1:p.Gln172Lys
XM_011541557.1:c.514C>A	XP_011539859.1:p.Gln172Lys
XM_011541558.1:c.439C>A	XP_011539860.1:p.Gln147Lys
XM_011541558.2:c.439C>A	XP_011539860.1:p.Gln147Lys
XM_011541559.1:c.514C>A	XP_011539861.1:p.Gln172Lys
XM_011541560.1:c.514C>A	XP_011539862.1:p.Gln172Lys
XM_011541561.1:c.514C>A	XP_011539863.1:p.Gln172Lys
XM_011541561.2:c.553C>A	XP_011539863.2:p.Gln185Lys
XM_017001421.1:c.553C>A	XP_016856910.1:p.Gln185Lys
XM_024447484.1:c.553C>A	XP_024303252.1:p.Gln185Lys
XM_024447485.1:c.514C>A	XP_024303253.1:p.Gln172Lys
XM_024447486.1:c.478C>A	XP_024303254.1:p.Gln160Lys
XM_024447492.1:c.553C>A	XP_024303260.1:p.Gln185Lys
XM_024447493.1:c.553C>A	XP_024303261.1:p.Gln185Lys
XM_024447495.1:c.478C>A	XP_024303263.1:p.Gln160Lys
XM_024447498.1:c.478C>A	XP_024303266.1:p.Gln160Lys