Canonical Allele Identifier: CA414509096

Gene: AFF2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.148662170T>G , CM000685.2:g.148662170T>G	GRCh38
NC_000023.10:g.147743691T>G , CM000685.1:g.147743691T>G	GRCh37
NC_000023.9:g.147551383T>G	NCBI36
NG_016313.1:g.166553T>G
NG_016313.2:g.166552T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370460.7:c.443T>G MANE Select	ENSP00000359489.2:p.Leu148Arg
ENST00000342251.7:c.431T>G	ENSP00000345459.4:p.Leu144Arg
ENST00000370457.9:c.443T>G	ENSP00000359486.6:p.Leu148Arg
ENST00000370458.5:c.431T>G	ENSP00000359487.1:p.Leu144Arg
ENST00000370460.6:c.443T>G	ENSP00000359489.2:p.Leu148Arg
NM_001169122.1:c.431T>G	NP_001162593.1:p.Leu144Arg
NM_001169123.1:c.431T>G	NP_001162594.1:p.Leu144Arg
NM_001169124.1:c.443T>G	NP_001162595.1:p.Leu148Arg
NM_001169125.1:c.431T>G	NP_001162596.1:p.Leu144Arg
NM_002025.3:c.443T>G	NP_002016.2:p.Leu148Arg
NM_001169122.2:c.431T>G	NP_001162593.1:p.Leu144Arg
NM_001169123.2:c.431T>G	NP_001162594.1:p.Leu144Arg
NM_001169124.2:c.443T>G	NP_001162595.1:p.Leu148Arg
NM_001169125.2:c.431T>G	NP_001162596.1:p.Leu144Arg
NM_002025.4:c.443T>G MANE Select	NP_002016.2:p.Leu148Arg