Canonical Allele Identifier: CA411091028
Community Standard Title: NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28687922G>A , CM000684.2:g.28687922G>A GRCh38
NC_000022.10:g.29083910G>A , CM000684.1:g.29083910G>A GRCh37
NC_000022.9:g.27413910G>A NCBI36
NG_008150.1:g.58913C>T
NG_008150.2:g.58945C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1607C>T MANE Select NP_009125.1:p.Pro536Leu
ENST00000404276.6:c.1607C>T MANE Select ENSP00000385747.1:p.Pro536Leu
NM_001005735.1:c.1736C>T NP_001005735.1:p.Pro579Leu
NM_001005735.2:c.1736C>T NP_001005735.1:p.Pro579Leu
NM_001257387.1:c.944C>T NP_001244316.1:p.Pro315Leu
NM_001257387.2:c.944C>T NP_001244316.1:p.Pro315Leu
NM_001349956.1:c.1406C>T NP_001336885.1:p.Pro469Leu
NM_001349956.2:c.1406C>T NP_001336885.1:p.Pro469Leu
NM_007194.3:c.1607C>T NP_009125.1:p.Pro536Leu
NM_145862.2:c.1520C>T NP_665861.1:p.Pro507Leu
ENST00000328354.10:c.1607C>T ENSP00000329178.6:p.Pro536Leu
ENST00000348295.7:c.1520C>T ENSP00000329012.5:p.Pro507Leu
ENST00000382580.6:c.1736C>T ENSP00000372023.2:p.Pro579Leu
ENST00000402731.5:c.1520C>T ENSP00000384835.1:p.Pro507Leu
ENST00000402731.6:c.1406C>T ENSP00000384835.2:p.Pro469Leu
ENST00000403642.5:c.1334C>T ENSP00000384919.1:p.Pro445Leu
ENST00000404276.5:c.1607C>T ENSP00000385747.1:p.Pro536Leu
ENST00000405598.5:c.1607C>T ENSP00000386087.1:p.Pro536Leu
ENST00000416671.5:c.*1097C>T ENSP00000402225.1:n.*1097C>T
ENST00000417588.5:c.1516C>T ENSP00000412901.1:n.1516C>T
ENST00000425190.7:c.944C>T ENSP00000390244.2:p.Pro315Leu
ENST00000433728.5:c.1545C>T ENSP00000404400.1:n.1545C>T
ENST00000434810.5:c.805C>T
ENST00000448511.5:c.1497C>T ENSP00000404567.1:n.1497C>T
ENST00000456369.5:c.409C>T
ENST00000464581.6:c.947C>T ENSP00000483777.2:p.Pro316Leu
ENST00000472807.1:n.341C>T
ENST00000648295.1:n.1159C>T
ENST00000649563.1:c.944C>T ENSP00000496928.1:p.Pro315Leu
ENST00000650281.1:c.1607C>T ENSP00000497000.1:p.Pro536Leu
ENST00000711048.1:c.*342C>T ENSP00000518557.1:n.*342C>T
XM_006724114.2:c.1127C>T XP_006724177.1:p.Pro376Leu
XM_006724114.3:c.1160C>T XP_006724177.2:p.Pro387Leu
XM_006724116.2:c.1064C>T XP_006724179.2:p.Pro355Leu
XM_011529839.1:c.1766C>T XP_011528141.1:p.Pro589Leu
XM_011529839.2:c.1766C>T XP_011528141.1:p.Pro589Leu
XM_011529840.1:c.1679C>T XP_011528142.1:p.Pro560Leu
XM_011529840.3:c.1679C>T XP_011528142.1:p.Pro560Leu
XM_011529841.1:c.1535C>T XP_011528143.1:p.Pro512Leu
XM_011529842.1:c.1436C>T XP_011528144.1:p.Pro479Leu
XM_011529842.2:c.1436C>T XP_011528144.1:p.Pro479Leu
XM_011529843.1:c.1406C>T XP_011528145.1:p.Pro469Leu
XM_011529845.1:c.944C>T XP_011528147.1:p.Pro315Leu
XM_011529845.2:c.944C>T XP_011528147.1:p.Pro315Leu
XM_017028560.1:c.1730C>T XP_016884049.1:p.Pro577Leu
XM_017028561.2:c.944C>T XP_016884050.1:p.Pro315Leu
XM_024452148.1:c.1637C>T XP_024307916.1:p.Pro546Leu
XM_024452149.1:c.1550C>T XP_024307917.1:p.Pro517Leu
XR_937805.1:n.1766C>T
XR_937805.2:n.1777C>T