Canonical Allele Identifier: CA414509368
Community Standard Title: NM_002025.4(AFF2):c.511G>T (p.Ala171Ser)
Gene: AFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148662238G>T , CM000685.2:g.148662238G>T GRCh38
NC_000023.10:g.147743759G>T , CM000685.1:g.147743759G>T GRCh37
NC_000023.9:g.147551451G>T NCBI36
NG_016313.1:g.166621G>T
NG_016313.2:g.166620G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002025.4:c.511G>T MANE Select NP_002016.2:p.Ala171Ser
ENST00000370460.7:c.511G>T MANE Select ENSP00000359489.2:p.Ala171Ser
NM_001169122.1:c.499G>T NP_001162593.1:p.Ala167Ser
NM_001169122.2:c.499G>T NP_001162593.1:p.Ala167Ser
NM_001169123.1:c.499G>T NP_001162594.1:p.Ala167Ser
NM_001169123.2:c.499G>T NP_001162594.1:p.Ala167Ser
NM_001169124.1:c.511G>T NP_001162595.1:p.Ala171Ser
NM_001169124.2:c.511G>T NP_001162595.1:p.Ala171Ser
NM_001169125.1:c.499G>T NP_001162596.1:p.Ala167Ser
NM_001169125.2:c.499G>T NP_001162596.1:p.Ala167Ser
NM_002025.3:c.511G>T NP_002016.2:p.Ala171Ser
ENST00000342251.7:c.499G>T ENSP00000345459.4:p.Ala167Ser
ENST00000370457.9:c.511G>T ENSP00000359486.6:p.Ala171Ser
ENST00000370458.5:c.499G>T ENSP00000359487.1:p.Ala167Ser
ENST00000370460.6:c.511G>T ENSP00000359489.2:p.Ala171Ser