Canonical Allele Identifier: CA414511390
Community Standard Title: NM_002025.4(AFF2):c.1292G>A (p.Ser431Asn)
Gene: AFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148885918G>A , CM000685.2:g.148885918G>A GRCh38
NC_000023.10:g.147967448G>A , CM000685.1:g.147967448G>A GRCh37
NC_000023.9:g.147775141G>A NCBI36
NG_016313.1:g.390310G>A
NG_016313.2:g.390300G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002025.4:c.1292G>A MANE Select NP_002016.2:p.Ser431Asn
ENST00000370460.7:c.1292G>A MANE Select ENSP00000359489.2:p.Ser431Asn
NM_001169122.1:c.1193G>A NP_001162593.1:p.Ser398Asn
NM_001169122.2:c.1193G>A NP_001162593.1:p.Ser398Asn
NM_001169123.1:c.1262G>A NP_001162594.1:p.Ser421Asn
NM_001169123.2:c.1262G>A NP_001162594.1:p.Ser421Asn
NM_001169124.1:c.1187G>A NP_001162595.1:p.Ser396Asn
NM_001169124.2:c.1187G>A NP_001162595.1:p.Ser396Asn
NM_001169125.1:c.1175G>A NP_001162596.1:p.Ser392Asn
NM_001169125.2:c.1175G>A NP_001162596.1:p.Ser392Asn
NM_001170628.1:c.215G>A NP_001164099.1:p.Ser72Asn
NM_002025.3:c.1292G>A NP_002016.2:p.Ser431Asn
ENST00000286437.7:c.215G>A ENSP00000286437.5:p.Ser72Asn
ENST00000342251.7:c.1193G>A ENSP00000345459.4:p.Ser398Asn
ENST00000370457.9:c.1187G>A ENSP00000359486.6:p.Ser396Asn
ENST00000370458.5:c.1175G>A ENSP00000359487.1:p.Ser392Asn
ENST00000370460.6:c.1292G>A ENSP00000359489.2:p.Ser431Asn
ENST00000671877.1:n.305G>A
ENST00000673378.1:n.518G>A