Canonical Allele Identifier: CA196742
Community Standard Title: NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28719414T>C , CM000684.2:g.28719414T>C GRCh38
NC_000022.10:g.29115402T>C , CM000684.1:g.29115402T>C GRCh37
NC_000022.9:g.27445402T>C NCBI36
NG_008150.1:g.27421A>G
NG_008150.2:g.27453A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.664A>G MANE Select NP_009125.1:p.Met222Val
ENST00000404276.6:c.664A>G MANE Select ENSP00000385747.1:p.Met222Val
NM_001005735.1:c.793A>G NP_001005735.1:p.Met265Val
NM_001005735.2:c.793A>G NP_001005735.1:p.Met265Val
NM_001257387.1:c.1A>G NP_001244316.1:p.Met1Val
NM_001257387.2:c.1A>G NP_001244316.1:p.Met1Val
NM_001349956.1:c.482+5472A>G NP_001336885.1:n.482+5472A>G
NM_001349956.2:c.482+5472A>G NP_001336885.1:n.482+5472A>G
NM_007194.3:c.664A>G NP_009125.1:p.Met222Val
NM_145862.2:c.664A>G NP_665861.1:p.Met222Val
ENST00000328354.10:c.664A>G ENSP00000329178.6:p.Met222Val
ENST00000348295.7:c.664A>G ENSP00000329012.5:p.Met222Val
ENST00000382580.6:c.793A>G ENSP00000372023.2:p.Met265Val
ENST00000402731.5:c.664A>G ENSP00000384835.1:p.Met222Val
ENST00000402731.6:c.482+5472A>G ENSP00000384835.2:n.482+5472A>G
ENST00000403642.5:c.391A>G ENSP00000384919.1:p.Met131Val
ENST00000404276.5:c.664A>G ENSP00000385747.1:p.Met222Val
ENST00000405598.5:c.664A>G ENSP00000386087.1:p.Met222Val
ENST00000416671.5:c.*154A>G ENSP00000402225.1:n.*154A>G
ENST00000417588.5:c.592+5563A>G ENSP00000412901.1:n.592+5563A>G
ENST00000425190.6:c.1A>G ENSP00000390244.1:p.Met1Val
ENST00000425190.7:c.1A>G ENSP00000390244.2:p.Met1Val
ENST00000433028.6:c.*389A>G ENSP00000403659.1:n.*389A>G
ENST00000433728.5:c.664A>G ENSP00000404400.1:p.Met222Val
ENST00000439200.5:c.757A>G ENSP00000408065.1:p.Met253Val
ENST00000439346.5:c.154+5563A>G ENSP00000396903.1:n.154+5563A>G
ENST00000439346.6:c.592+5563A>G ENSP00000396903.2:n.592+5563A>G
ENST00000447421.5:c.482+5472A>G ENSP00000397478.2:n.482+5472A>G
ENST00000448511.5:c.554A>G ENSP00000404567.1:n.554A>G
ENST00000649563.1:c.1A>G ENSP00000496928.1:p.Met1Val
ENST00000650281.1:c.664A>G ENSP00000497000.1:p.Met222Val
ENST00000711048.1:c.664A>G ENSP00000518557.1:p.Met222Val
XM_011529839.1:c.823A>G XP_011528141.1:p.Met275Val
XM_011529839.2:c.823A>G XP_011528141.1:p.Met275Val
XM_011529840.1:c.823A>G XP_011528142.1:p.Met275Val
XM_011529840.3:c.823A>G XP_011528142.1:p.Met275Val
XM_011529841.1:c.611+5472A>G XP_011528143.1:n.611+5472A>G
XM_011529842.1:c.512+5472A>G XP_011528144.1:n.512+5472A>G
XM_011529842.2:c.512+5472A>G XP_011528144.1:n.512+5472A>G
XM_011529843.1:c.482+5472A>G XP_011528145.1:n.482+5472A>G
XM_011529844.1:c.823A>G XP_011528146.1:p.Met275Val
XM_011529844.2:c.823A>G XP_011528146.1:p.Met275Val
XM_011529845.1:c.1A>G XP_011528147.1:p.Met1Val
XM_011529845.2:c.1A>G XP_011528147.1:p.Met1Val
XM_017028560.1:c.787A>G XP_016884049.1:p.Met263Val
XM_017028561.2:c.1A>G XP_016884050.1:p.Met1Val
XM_024452148.1:c.694A>G XP_024307916.1:p.Met232Val
XM_024452149.1:c.694A>G XP_024307917.1:p.Met232Val
XR_937805.1:n.885A>G
XR_937805.2:n.896A>G
XR_937806.1:n.880A>G
XR_937806.2:n.896A>G
XR_937807.1:n.880A>G
XR_937807.2:n.896A>G