Canonical Allele Identifier: CA119886
Gene: GCKR HGNC NCBI
COSMIC:
COSM4133785 (not active)
MyVariant.info:
GRCh38 chr2:g.27508073T>C
GRCh37 chr2:g.27730940T>C
Revel Score:
ENST00000264717 (MANE Select) 0.080
ENST00000424318 0.080
gnomAD v2:
2:27730940 T / C
gnomAD v3:
2:27508073 T / C
gnomAD v4:
chr2-27508073-T-C
Joint Max Group AF 0.85519535 (AFR)
Genomes Max Group AF 0.85116422 (AFR)
Exomes Max Group AF 0.85506534 (AFR)
ClinVar RCV:
RCV000009294
RCV001618209
ClinVar Variation:
8751
dbSNP:
1260326
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27508073T>C , CM000664.2:g.27508073T>C GRCh38
NC_000002.11:g.27730940T>C , CM000664.1:g.27730940T>C GRCh37
NC_000002.10:g.27584444T>C NCBI36
NG_028024.1:g.16235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264717.7:c.1337T>C MANE Select ENSP00000264717.2:p.Leu446Pro
ENST00000264717.6:c.1337T>C ENSP00000264717.2:p.Leu446Pro
ENST00000411584.1:c.439T>C
ENST00000478147.1:n.534T>C
NM_001486.3:c.1337T>C NP_001477.2:p.Leu446Pro
XM_011532761.1:c.1184T>C XP_011531063.1:p.Leu395Pro
XM_011532762.1:c.767T>C XP_011531064.1:p.Leu256Pro
XM_017003796.1:c.767T>C XP_016859285.1:p.Leu256Pro
XM_017003797.1:c.767T>C XP_016859286.1:p.Leu256Pro
NM_001486.4:c.1337T>C MANE Select NP_001477.2:p.Leu446Pro
Search 100 bp 5'
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