Canonical Allele Identifier: CA10537066
Community Standard Title: NM_002025.4(AFF2):c.1834C>G (p.His612Asp)
Gene: AFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148955879C>G , CM000685.2:g.148955879C>G GRCh38
NC_000023.10:g.148037409C>G , CM000685.1:g.148037409C>G GRCh37
NC_000023.9:g.147845109C>G NCBI36
NG_016313.1:g.460271C>G
NG_016313.2:g.460261C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002025.4:c.1834C>G MANE Select NP_002016.2:p.His612Asp
ENST00000370460.7:c.1834C>G MANE Select ENSP00000359489.2:p.His612Asp
NM_001169122.1:c.1735C>G NP_001162593.1:p.His579Asp
NM_001169122.2:c.1735C>G NP_001162593.1:p.His579Asp
NM_001169123.1:c.1804C>G NP_001162594.1:p.His602Asp
NM_001169123.2:c.1804C>G NP_001162594.1:p.His602Asp
NM_001169124.1:c.1729C>G NP_001162595.1:p.His577Asp
NM_001169124.2:c.1729C>G NP_001162595.1:p.His577Asp
NM_001169125.1:c.1717C>G NP_001162596.1:p.His573Asp
NM_001169125.2:c.1717C>G NP_001162596.1:p.His573Asp
NM_001170628.1:c.757C>G NP_001164099.1:p.His253Asp
NM_002025.3:c.1834C>G NP_002016.2:p.His612Asp
ENST00000286437.7:c.757C>G ENSP00000286437.5:p.His253Asp
ENST00000342251.7:c.1735C>G ENSP00000345459.4:p.His579Asp
ENST00000370457.9:c.1729C>G ENSP00000359486.6:p.His577Asp
ENST00000370460.6:c.1834C>G ENSP00000359489.2:p.His612Asp
ENST00000671877.1:n.847C>G