Canonical Allele Identifier: CA491609299
Community Standard Title: NM_004136.4(IREB2):c.2616C>G (p.Ala872=)
Gene: IREB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78497146C>G , CM000677.2:g.78497146C>G GRCh38
NC_000015.9:g.78789488C>G , CM000677.1:g.78789488C>G GRCh37
NC_000015.8:g.76576543C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004136.4:c.2616C>G MANE Select NP_004127.2:p.Ala872=
ENST00000258886.13:c.2616C>G MANE Select ENSP00000258886.8:p.Ala872=
NM_001320941.1:c.1866C>G NP_001307870.1:p.Ala622=
NM_001320941.2:c.1866C>G NP_001307870.2:p.Ala622=
NM_001320942.1:c.2445C>G NP_001307871.1:p.Ala815=
NM_001320942.2:c.2445C>G NP_001307871.2:p.Ala815=
NM_001354994.1:c.2445C>G NP_001341923.1:p.Ala815=
NM_001354994.2:c.2445C>G NP_001341923.2:p.Ala815=
NM_004136.2:c.2616C>G NP_004127.1:p.Ala872=
NM_004136.3:c.2616C>G NP_004127.1:p.Ala872=
ENST00000258886.12:c.2616C>G ENSP00000258886.8:p.Ala872=
ENST00000558570.5:c.*1883C>G ENSP00000454063.1:n.*1883C>G
ENST00000559091.1:c.76C>G