Canonical Allele Identifier: CA1831374
Gene: MERTK HGNC NCBI
COSMIC:
COSM3736212 (not active)
COSM4418611 (not active)
MyVariant.info:
GRCh38 chr2:g.111994351G>A
GRCh37 chr2:g.112751928G>A
Revel Score:
ENST00000295408 (MANE Select) 0.046
ENST00000421804 0.046
ENST00000393237 0.046
ENST00000409780 0.046
gnomAD v2:
2:112751928 G / A
gnomAD v3:
2:111994351 G / A
gnomAD v4:
chr2-111994351-G-A
Joint Max Group AF 0.65297403 (AFR)
Genomes Max Group AF 0.65049727 (AFR)
Exomes Max Group AF 0.65156133 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111994351G>A , CM000664.2:g.111994351G>A GRCh38
NC_000002.11:g.112751928G>A , CM000664.1:g.112751928G>A GRCh37
NC_000002.10:g.112468399G>A NCBI36
NG_011607.1:g.100738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.1397G>A MANE Select ENSP00000295408.4:p.Arg466Lys
ENST00000295408.8:c.1397G>A ENSP00000295408.4:p.Arg466Lys
ENST00000409780.5:c.869G>A ENSP00000387277.1:p.Arg290Lys
ENST00000421804.6:c.1397G>A ENSP00000389152.2:p.Arg466Lys
ENST00000439966.5:c.*870G>A ENSP00000402129.1:n.*870G>A
ENST00000616902.4:c.182G>A ENSP00000482824.1:p.Arg61Lys
NM_006343.2:c.1397G>A NP_006334.2:p.Arg466Lys
XM_005263565.3:c.1397G>A XP_005263622.1:p.Arg466Lys
XM_005263568.3:c.1397G>A XP_005263625.1:p.Arg466Lys
XM_011510490.1:c.1208G>A XP_011508792.1:p.Arg403Lys
XM_011510491.1:c.182G>A XP_011508793.1:p.Arg61Lys
XM_005263565.4:c.1397G>A XP_005263622.1:p.Arg466Lys
XM_005263568.4:c.1397G>A XP_005263625.1:p.Arg466Lys
XM_011510490.3:c.1208G>A XP_011508792.1:p.Arg403Lys
XM_017003164.1:c.1208G>A XP_016858653.1:p.Arg403Lys
XM_017003165.2:c.182G>A XP_016858654.1:p.Arg61Lys
NM_006343.3:c.1397G>A MANE Select NP_006334.2:p.Arg466Lys
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