Canonical Allele Identifier: CA10537378

Gene: AFF2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.148987422A>C , CM000685.2:g.148987422A>C	GRCh38
NC_000023.10:g.148068952A>C , CM000685.1:g.148068952A>C	GRCh37
NC_000023.9:g.147876658A>C	NCBI36
NG_016313.1:g.491814A>C
NG_016313.2:g.491804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370460.7:c.3679A>C MANE Select	ENSP00000359489.2:p.Asn1227His
ENST00000671877.1:n.2692A>C
ENST00000286437.7:c.2602A>C	ENSP00000286437.5:p.Asn868His
ENST00000342251.7:c.3574A>C	ENSP00000345459.4:p.Asn1192His
ENST00000370457.9:c.3574A>C	ENSP00000359486.6:p.Asn1192His
ENST00000370460.6:c.3679A>C	ENSP00000359489.2:p.Asn1227His
NM_001169122.1:c.3574A>C	NP_001162593.1:p.Asn1192His
NM_001169123.1:c.3649A>C	NP_001162594.1:p.Asn1217His
NM_001169124.1:c.3574A>C	NP_001162595.1:p.Asn1192His
NM_001169125.1:c.3562A>C	NP_001162596.1:p.Asn1188His
NM_001170628.1:c.2602A>C	NP_001164099.1:p.Asn868His
NM_002025.3:c.3679A>C	NP_002016.2:p.Asn1227His
NM_001169122.2:c.3574A>C	NP_001162593.1:p.Asn1192His
NM_001169123.2:c.3649A>C	NP_001162594.1:p.Asn1217His
NM_001169124.2:c.3574A>C	NP_001162595.1:p.Asn1192His
NM_001169125.2:c.3562A>C	NP_001162596.1:p.Asn1188His
NM_002025.4:c.3679A>C MANE Select	NP_002016.2:p.Asn1227His