Canonical Allele Identifier: CA240067
Community Standard Title: NM_002025.4(AFF2):c.2780G>A (p.Arg927His)
Gene: AFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148962804G>A , CM000685.2:g.148962804G>A GRCh38
NC_000023.10:g.148044334G>A , CM000685.1:g.148044334G>A GRCh37
NC_000023.9:g.147852030G>A NCBI36
NG_016313.1:g.467196G>A
NG_016313.2:g.467186G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002025.4:c.2780G>A MANE Select NP_002016.2:p.Arg927His
ENST00000370460.7:c.2780G>A MANE Select ENSP00000359489.2:p.Arg927His
NM_001169122.1:c.2681G>A NP_001162593.1:p.Arg894His
NM_001169122.2:c.2681G>A NP_001162593.1:p.Arg894His
NM_001169123.1:c.2750G>A NP_001162594.1:p.Arg917His
NM_001169123.2:c.2750G>A NP_001162594.1:p.Arg917His
NM_001169124.1:c.2675G>A NP_001162595.1:p.Arg892His
NM_001169124.2:c.2675G>A NP_001162595.1:p.Arg892His
NM_001169125.1:c.2663G>A NP_001162596.1:p.Arg888His
NM_001169125.2:c.2663G>A NP_001162596.1:p.Arg888His
NM_001170628.1:c.1703G>A NP_001164099.1:p.Arg568His
NM_002025.3:c.2780G>A NP_002016.2:p.Arg927His
ENST00000286437.7:c.1703G>A ENSP00000286437.5:p.Arg568His
ENST00000342251.7:c.2681G>A ENSP00000345459.4:p.Arg894His
ENST00000370457.9:c.2675G>A ENSP00000359486.6:p.Arg892His
ENST00000370460.6:c.2780G>A ENSP00000359489.2:p.Arg927His
ENST00000671877.1:n.1793G>A