Canonical Allele Identifier: CA203053
Community Standard Title: NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr)
Gene: AFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148837681C>A , CM000685.2:g.148837681C>A GRCh38
NC_000023.10:g.147919205C>A , CM000685.1:g.147919205C>A GRCh37
NC_000023.9:g.147726897C>A NCBI36
NG_016313.1:g.342067C>A
NG_016313.2:g.342063C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002025.4:c.1121C>A MANE Select NP_002016.2:p.Ser374Tyr
ENST00000370460.7:c.1121C>A MANE Select ENSP00000359489.2:p.Ser374Tyr
NM_001169122.1:c.1075-5285C>A NP_001162593.1:n.1075-5285C>A
NM_001169122.2:c.1075-5285C>A NP_001162593.1:n.1075-5285C>A
NM_001169123.1:c.1109C>A NP_001162594.1:p.Ser370Tyr
NM_001169123.2:c.1109C>A NP_001162594.1:p.Ser370Tyr
NM_001169124.1:c.1087-5285C>A NP_001162595.1:n.1087-5285C>A
NM_001169124.2:c.1087-5285C>A NP_001162595.1:n.1087-5285C>A
NM_001169125.1:c.1075-5285C>A NP_001162596.1:n.1075-5285C>A
NM_001169125.2:c.1075-5285C>A NP_001162596.1:n.1075-5285C>A
NM_001170628.1:c.97-5285C>A NP_001164099.1:n.97-5285C>A
NM_002025.3:c.1121C>A NP_002016.2:p.Ser374Tyr
ENST00000286437.7:c.97-5285C>A ENSP00000286437.5:n.97-5285C>A
ENST00000342251.7:c.1075-5285C>A ENSP00000345459.4:n.1075-5285C>A
ENST00000370457.9:c.1087-5285C>A ENSP00000359486.6:n.1087-5285C>A
ENST00000370458.5:c.1075-5285C>A ENSP00000359487.1:n.1075-5285C>A
ENST00000370460.6:c.1121C>A ENSP00000359489.2:p.Ser374Tyr
ENST00000671877.1:n.187-5285C>A
ENST00000673378.1:n.253-5285C>A