Canonical Allele Identifier: CA2189527134
Community Standard Title: NM_004136.4(IREB2):c.106+1508T=
Gene: IREB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78441389T= , CM000677.2:g.78441389T= GRCh38
NC_000015.9:g.78733731T= , CM000677.1:g.78733731T= GRCh37
NC_000015.8:g.76520786T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004136.4:c.106+1508T= MANE Select NP_004127.2:n.106+1508T=
ENST00000258886.13:c.106+1508T= MANE Select ENSP00000258886.8:n.106+1508T=
NM_001320941.1:c.-575+1508T= NP_001307870.1:n.-575+1508T=
NM_001320941.2:c.-575+1508T= NP_001307870.2:n.-575+1508T=
NM_001320942.1:c.-66+1508T= NP_001307871.1:n.-66+1508T=
NM_001320942.2:c.-66+1508T= NP_001307871.2:n.-66+1508T=
NM_001320943.1:c.106+1508T= NP_001307872.1:n.106+1508T=
NM_001320943.2:c.106+1508T= NP_001307872.1:n.106+1508T=
NM_001354994.1:c.-66+1508T= NP_001341923.1:n.-66+1508T=
NM_001354994.2:c.-66+1508T= NP_001341923.2:n.-66+1508T=
NM_004136.2:c.106+1508T= NP_004127.1:n.106+1508T=
NM_004136.3:c.106+1508T= NP_004127.1:n.106+1508T=
ENST00000258886.12:c.106+1508T= ENSP00000258886.8:n.106+1508T=
ENST00000558525.5:c.101+1513T= ENSP00000453058.1:n.101+1513T=
ENST00000558570.5:c.106+1508T= ENSP00000454063.1:n.106+1508T=
ENST00000559215.5:c.106+1508T= ENSP00000453532.1:n.106+1508T=
ENST00000560440.5:c.106+1508T= ENSP00000452938.1:n.106+1508T=
ENST00000560454.1:n.522+1508T=
ENST00000560840.5:c.-66+1508T= ENSP00000453172.1:n.-66+1508T=