Canonical Allele Identifier: CA1581517
Gene: GCKR HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.27498276G>A
GRCh37 chr2:g.27721143G>A
Revel Score:
ENST00000264717 (MANE Select) 0.689
ENST00000453813 0.689
gnomAD v2:
2:27721143 G / A
gnomAD v3:
2:27498276 G / A
gnomAD v4:
chr2-27498276-G-A
Joint Max Group AF 0.01318155 (AMR)
Genomes Max Group AF 0.0104285 (AMR)
Exomes Max Group AF 0.01376247 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27498276G>A , CM000664.2:g.27498276G>A GRCh38
NC_000002.11:g.27721143G>A , CM000664.1:g.27721143G>A GRCh37
NC_000002.10:g.27574647G>A NCBI36
NG_028024.1:g.6438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264717.7:c.307G>A MANE Select ENSP00000264717.2:p.Val103Met
ENST00000264717.6:c.307G>A ENSP00000264717.2:p.Val103Met
ENST00000417872.5:c.307G>A ENSP00000398303.1:p.Val103Met
ENST00000453813.1:c.223G>A ENSP00000399463.1:p.Val75Met
ENST00000472290.1:n.329G>A
NM_001486.3:c.307G>A NP_001477.2:p.Val103Met
XM_011532761.1:c.307G>A XP_011531063.1:p.Val103Met
XM_011532762.1:c.-197G>A XP_011531064.1:n.-197G>A
XM_011532763.1:c.307G>A XP_011531065.1:p.Val103Met
XR_001738699.1:n.373G>A
NM_001486.4:c.307G>A MANE Select NP_001477.2:p.Val103Met
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