Canonical Allele Identifier: CA414511754
Community Standard Title: NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser)
Gene: AFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148966886A>T , CM000685.2:g.148966886A>T GRCh38
NC_000023.10:g.148048416A>T , CM000685.1:g.148048416A>T GRCh37
NC_000023.9:g.147856110A>T NCBI36
NG_016313.1:g.471278A>T
NG_016313.2:g.471268A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002025.4:c.3010A>T MANE Select NP_002016.2:p.Thr1004Ser
ENST00000370460.7:c.3010A>T MANE Select ENSP00000359489.2:p.Thr1004Ser
NM_001169122.1:c.2905A>T NP_001162593.1:p.Thr969Ser
NM_001169122.2:c.2905A>T NP_001162593.1:p.Thr969Ser
NM_001169123.1:c.2980A>T NP_001162594.1:p.Thr994Ser
NM_001169123.2:c.2980A>T NP_001162594.1:p.Thr994Ser
NM_001169124.1:c.2905A>T NP_001162595.1:p.Thr969Ser
NM_001169124.2:c.2905A>T NP_001162595.1:p.Thr969Ser
NM_001169125.1:c.2893A>T NP_001162596.1:p.Thr965Ser
NM_001169125.2:c.2893A>T NP_001162596.1:p.Thr965Ser
NM_001170628.1:c.1933A>T NP_001164099.1:p.Thr645Ser
NM_002025.3:c.3010A>T NP_002016.2:p.Thr1004Ser
ENST00000286437.7:c.1933A>T ENSP00000286437.5:p.Thr645Ser
ENST00000342251.7:c.2905A>T ENSP00000345459.4:p.Thr969Ser
ENST00000370457.9:c.2905A>T ENSP00000359486.6:p.Thr969Ser
ENST00000370460.6:c.3010A>T ENSP00000359489.2:p.Thr1004Ser
ENST00000671877.1:n.2023A>T