Canonical Allele Identifier: CA414511756
Community Standard Title: NM_002025.4(AFF2):c.3011C>G (p.Thr1004Ser)
Gene: AFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148966887C>G , CM000685.2:g.148966887C>G GRCh38
NC_000023.10:g.148048417C>G , CM000685.1:g.148048417C>G GRCh37
NC_000023.9:g.147856111C>G NCBI36
NG_016313.1:g.471279C>G
NG_016313.2:g.471269C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002025.4:c.3011C>G MANE Select NP_002016.2:p.Thr1004Ser
ENST00000370460.7:c.3011C>G MANE Select ENSP00000359489.2:p.Thr1004Ser
NM_001169122.1:c.2906C>G NP_001162593.1:p.Thr969Ser
NM_001169122.2:c.2906C>G NP_001162593.1:p.Thr969Ser
NM_001169123.1:c.2981C>G NP_001162594.1:p.Thr994Ser
NM_001169123.2:c.2981C>G NP_001162594.1:p.Thr994Ser
NM_001169124.1:c.2906C>G NP_001162595.1:p.Thr969Ser
NM_001169124.2:c.2906C>G NP_001162595.1:p.Thr969Ser
NM_001169125.1:c.2894C>G NP_001162596.1:p.Thr965Ser
NM_001169125.2:c.2894C>G NP_001162596.1:p.Thr965Ser
NM_001170628.1:c.1934C>G NP_001164099.1:p.Thr645Ser
NM_002025.3:c.3011C>G NP_002016.2:p.Thr1004Ser
ENST00000286437.7:c.1934C>G ENSP00000286437.5:p.Thr645Ser
ENST00000342251.7:c.2906C>G ENSP00000345459.4:p.Thr969Ser
ENST00000370457.9:c.2906C>G ENSP00000359486.6:p.Thr969Ser
ENST00000370460.6:c.3011C>G ENSP00000359489.2:p.Thr1004Ser
ENST00000671877.1:n.2024C>G