Canonical Allele Identifier: CA359092373

Gene: IRX2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.2751187G>A , CM000667.2:g.2751187G>A	GRCh38
NC_000005.9:g.2751301G>A , CM000667.1:g.2751301G>A	GRCh37
NC_000005.8:g.2804301G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033267.5:c.227C>T MANE Select	NP_150366.1:p.Ala76Val
ENST00000302057.6:c.227C>T MANE Select	ENSP00000307006.5:p.Ala76Val
NM_001134222.1:c.227C>T	NP_001127694.1:p.Ala76Val
NM_001134222.2:c.227C>T	NP_001127694.1:p.Ala76Val
NM_033267.4:c.227C>T	NP_150366.1:p.Ala76Val
ENST00000302057.5:c.227C>T	ENSP00000307006.5:p.Ala76Val
ENST00000382611.10:c.227C>T	ENSP00000372056.6:p.Ala76Val
XM_011513978.1:c.227C>T	XP_011512280.1:p.Ala76Val
XM_011513979.1:c.227C>T	XP_011512281.1:p.Ala76Val
XM_011513979.2:c.227C>T	XP_011512281.1:p.Ala76Val
XR_001742016.1:n.396C>T