Canonical Allele Identifier: CA273886420
Community Standard Title: NM_004136.4(IREB2):c.1024-1244T>A
Gene: IREB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78474944T>A , CM000677.2:g.78474944T>A GRCh38
NC_000015.9:g.78767286T>A , CM000677.1:g.78767286T>A GRCh37
NC_000015.8:g.76554341T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004136.4:c.1024-1244T>A MANE Select NP_004127.2:n.1024-1244T>A
ENST00000258886.13:c.1024-1244T>A MANE Select ENSP00000258886.8:n.1024-1244T>A
NM_001320941.1:c.274-1244T>A NP_001307870.1:n.274-1244T>A
NM_001320941.2:c.274-1244T>A NP_001307870.2:n.274-1244T>A
NM_001320942.1:c.853-1244T>A NP_001307871.1:n.853-1244T>A
NM_001320942.2:c.853-1244T>A NP_001307871.2:n.853-1244T>A
NM_001320943.2:c.*1554T>A NP_001307872.1:n.*1554T>A
NM_001354994.1:c.853-1244T>A NP_001341923.1:n.853-1244T>A
NM_001354994.2:c.853-1244T>A NP_001341923.2:n.853-1244T>A
NM_004136.2:c.1024-1244T>A NP_004127.1:n.1024-1244T>A
NM_004136.3:c.1024-1244T>A NP_004127.1:n.1024-1244T>A
ENST00000258886.12:c.1024-1244T>A ENSP00000258886.8:n.1024-1244T>A
ENST00000558570.5:c.*291-1244T>A ENSP00000454063.1:n.*291-1244T>A
ENST00000560440.5:c.*1554T>A ENSP00000452938.1:n.*1554T>A