Canonical Allele Identifier: CA372333264
Community Standard Title: NM_012154.5(AGO2):c.1918C>A (p.Gln640Lys)
Gene: AGO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.140541280G>T , CM000670.2:g.140541280G>T GRCh38
NC_000008.10:g.141551379G>T , CM000670.1:g.141551379G>T GRCh37
NC_000008.9:g.141620561G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012154.5:c.1918C>A MANE Select NP_036286.2:p.Gln640Lys
ENST00000220592.10:c.1918C>A MANE Select ENSP00000220592.5:p.Gln640Lys
NM_001164623.1:c.1918C>A NP_001158095.1:p.Gln640Lys
NM_001164623.2:c.1918C>A NP_001158095.1:p.Gln640Lys
NM_001164623.3:c.1918C>A NP_001158095.1:p.Gln640Lys
NM_012154.3:c.1918C>A NP_036286.2:p.Gln640Lys
NM_012154.4:c.1918C>A NP_036286.2:p.Gln640Lys
ENST00000220592.9:c.1918C>A ENSP00000220592.5:p.Gln640Lys
ENST00000519980.5:c.1918C>A ENSP00000430176.1:p.Gln640Lys
ENST00000520412.1:n.178C>A
ENST00000523609.5:c.*1503C>A ENSP00000430164.1:n.*1503C>A
XM_011516964.1:c.2005C>A XP_011515266.1:p.Gln669Lys
XM_011516965.1:c.1960C>A XP_011515267.1:p.Gln654Lys
XM_011516965.2:c.1960C>A XP_011515267.1:p.Gln654Lys
XM_011516966.1:c.1780C>A XP_011515268.1:p.Gln594Lys
XM_011516966.3:c.1780C>A XP_011515268.1:p.Gln594Lys
XM_011516967.1:c.1687C>A XP_011515269.1:p.Gln563Lys
XM_011516968.1:c.1780C>A XP_011515270.1:p.Gln594Lys
XM_011516968.2:c.2095C>A XP_011515270.2:p.Gln699Lys
XM_017013317.2:c.1687C>A XP_016868806.1:p.Gln563Lys