Canonical Allele Identifier: CA336997053

Gene: AFF2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.148837733G>A , CM000685.2:g.148837733G>A	GRCh38
NC_000023.10:g.147919257G>A , CM000685.1:g.147919257G>A	GRCh37
NC_000023.9:g.147726949G>A	NCBI36
NG_016313.1:g.342119G>A
NG_016313.2:g.342115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002025.4:c.1173G>A MANE Select	NP_002016.2:p.Gln391=
ENST00000370460.7:c.1173G>A MANE Select	ENSP00000359489.2:p.Gln391=
NM_001169122.1:c.1075-5233G>A	NP_001162593.1:n.1075-5233G>A
NM_001169122.2:c.1075-5233G>A	NP_001162593.1:n.1075-5233G>A
NM_001169123.1:c.1161G>A	NP_001162594.1:p.Gln387=
NM_001169123.2:c.1161G>A	NP_001162594.1:p.Gln387=
NM_001169124.1:c.1087-5233G>A	NP_001162595.1:n.1087-5233G>A
NM_001169124.2:c.1087-5233G>A	NP_001162595.1:n.1087-5233G>A
NM_001169125.1:c.1075-5233G>A	NP_001162596.1:n.1075-5233G>A
NM_001169125.2:c.1075-5233G>A	NP_001162596.1:n.1075-5233G>A
NM_001170628.1:c.97-5233G>A	NP_001164099.1:n.97-5233G>A
NM_002025.3:c.1173G>A	NP_002016.2:p.Gln391=
ENST00000286437.7:c.97-5233G>A	ENSP00000286437.5:n.97-5233G>A
ENST00000342251.7:c.1075-5233G>A	ENSP00000345459.4:n.1075-5233G>A
ENST00000370457.9:c.1087-5233G>A	ENSP00000359486.6:n.1087-5233G>A
ENST00000370458.5:c.1075-5233G>A	ENSP00000359487.1:n.1075-5233G>A
ENST00000370460.6:c.1173G>A	ENSP00000359489.2:p.Gln391=
ENST00000671877.1:n.187-5233G>A
ENST00000673378.1:n.253-5233G>A