Canonical Allele Identifier: CA414514862

Gene: AFF2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.148956375C>T , CM000685.2:g.148956375C>T	GRCh38
NC_000023.10:g.148037905C>T , CM000685.1:g.148037905C>T	GRCh37
NC_000023.9:g.147845605C>T	NCBI36
NG_016313.1:g.460767C>T
NG_016313.2:g.460757C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002025.4:c.2330C>T MANE Select	NP_002016.2:p.Thr777Ile
ENST00000370460.7:c.2330C>T MANE Select	ENSP00000359489.2:p.Thr777Ile
NM_001169122.1:c.2231C>T	NP_001162593.1:p.Thr744Ile
NM_001169122.2:c.2231C>T	NP_001162593.1:p.Thr744Ile
NM_001169123.1:c.2300C>T	NP_001162594.1:p.Thr767Ile
NM_001169123.2:c.2300C>T	NP_001162594.1:p.Thr767Ile
NM_001169124.1:c.2225C>T	NP_001162595.1:p.Thr742Ile
NM_001169124.2:c.2225C>T	NP_001162595.1:p.Thr742Ile
NM_001169125.1:c.2213C>T	NP_001162596.1:p.Thr738Ile
NM_001169125.2:c.2213C>T	NP_001162596.1:p.Thr738Ile
NM_001170628.1:c.1253C>T	NP_001164099.1:p.Thr418Ile
NM_002025.3:c.2330C>T	NP_002016.2:p.Thr777Ile
ENST00000286437.7:c.1253C>T	ENSP00000286437.5:p.Thr418Ile
ENST00000342251.7:c.2231C>T	ENSP00000345459.4:p.Thr744Ile
ENST00000370457.9:c.2225C>T	ENSP00000359486.6:p.Thr742Ile
ENST00000370460.6:c.2330C>T	ENSP00000359489.2:p.Thr777Ile
ENST00000671877.1:n.1343C>T