Canonical Allele Identifier: CA411092650
Community Standard Title: NM_007194.4(CHEK2):c.1475A>G (p.Lys492Arg)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689202T>C , CM000684.2:g.28689202T>C GRCh38
NC_000022.10:g.29085190T>C , CM000684.1:g.29085190T>C GRCh37
NC_000022.9:g.27415190T>C NCBI36
NG_008150.1:g.57633A>G
NG_008150.2:g.57665A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1475A>G MANE Select NP_009125.1:p.Lys492Arg
ENST00000404276.6:c.1475A>G MANE Select ENSP00000385747.1:p.Lys492Arg
NM_001005735.1:c.1604A>G NP_001005735.1:p.Lys535Arg
NM_001005735.2:c.1604A>G NP_001005735.1:p.Lys535Arg
NM_001257387.1:c.812A>G NP_001244316.1:p.Lys271Arg
NM_001257387.2:c.812A>G NP_001244316.1:p.Lys271Arg
NM_001349956.1:c.1274A>G NP_001336885.1:p.Lys425Arg
NM_001349956.2:c.1274A>G NP_001336885.1:p.Lys425Arg
NM_007194.3:c.1475A>G NP_009125.1:p.Lys492Arg
NM_145862.2:c.1388A>G NP_665861.1:p.Lys463Arg
ENST00000328354.10:c.1475A>G ENSP00000329178.6:p.Lys492Arg
ENST00000348295.7:c.1388A>G ENSP00000329012.5:p.Lys463Arg
ENST00000382580.6:c.1604A>G ENSP00000372023.2:p.Lys535Arg
ENST00000402731.5:c.1388A>G ENSP00000384835.1:p.Lys463Arg
ENST00000402731.6:c.1274A>G ENSP00000384835.2:p.Lys425Arg
ENST00000403642.5:c.1202A>G ENSP00000384919.1:p.Lys401Arg
ENST00000404276.5:c.1475A>G ENSP00000385747.1:p.Lys492Arg
ENST00000405598.5:c.1475A>G ENSP00000386087.1:p.Lys492Arg
ENST00000416671.5:c.*965A>G ENSP00000402225.1:n.*965A>G
ENST00000417588.5:c.1384A>G ENSP00000412901.1:n.1384A>G
ENST00000425190.7:c.812A>G ENSP00000390244.2:p.Lys271Arg
ENST00000433728.5:c.1413A>G ENSP00000404400.1:n.1413A>G
ENST00000434810.5:c.673A>G
ENST00000448511.5:c.1365A>G ENSP00000404567.1:n.1365A>G
ENST00000456369.5:c.277A>G
ENST00000464581.6:c.815A>G ENSP00000483777.2:p.Lys272Arg
ENST00000472807.1:n.209A>G
ENST00000648295.1:n.1027A>G
ENST00000649563.1:c.812A>G ENSP00000496928.1:p.Lys271Arg
ENST00000650281.1:c.1475A>G ENSP00000497000.1:p.Lys492Arg
ENST00000711048.1:c.*210A>G ENSP00000518557.1:n.*210A>G
XM_006724114.2:c.995A>G XP_006724177.1:p.Lys332Arg
XM_006724114.3:c.1028A>G XP_006724177.2:p.Lys343Arg
XM_006724116.2:c.932A>G XP_006724179.2:p.Lys311Arg
XM_011529839.1:c.1634A>G XP_011528141.1:p.Lys545Arg
XM_011529839.2:c.1634A>G XP_011528141.1:p.Lys545Arg
XM_011529840.1:c.1547A>G XP_011528142.1:p.Lys516Arg
XM_011529840.3:c.1547A>G XP_011528142.1:p.Lys516Arg
XM_011529841.1:c.1403A>G XP_011528143.1:p.Lys468Arg
XM_011529842.1:c.1304A>G XP_011528144.1:p.Lys435Arg
XM_011529842.2:c.1304A>G XP_011528144.1:p.Lys435Arg
XM_011529843.1:c.1274A>G XP_011528145.1:p.Lys425Arg
XM_011529845.1:c.812A>G XP_011528147.1:p.Lys271Arg
XM_011529845.2:c.812A>G XP_011528147.1:p.Lys271Arg
XM_017028560.1:c.1598A>G XP_016884049.1:p.Lys533Arg
XM_017028561.2:c.812A>G XP_016884050.1:p.Lys271Arg
XM_024452148.1:c.1505A>G XP_024307916.1:p.Lys502Arg
XM_024452149.1:c.1418A>G XP_024307917.1:p.Lys473Arg
XR_937805.1:n.1634A>G
XR_937805.2:n.1645A>G