Canonical Allele Identifier: CA348231238

Gene: MERTK

Linked Data

• dbSNP Id: rs1454623859
• gnomAD v2: 2-112754949-T-A
• gnomAD v4: 2-111997372-T-A
• COSMIC: COSM5732067 ; COSM5732068
• MyVariant Identifiers: chr2:g.112754949T>A (hg19) ; chr2:g.111997372T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997372T>A , CM000664.2:g.111997372T>A	GRCh38
NC_000002.11:g.112754949T>A , CM000664.1:g.112754949T>A	GRCh37
NC_000002.10:g.112471420T>A	NCBI36
NG_011607.1:g.103759T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1500T>A MANE Select	ENSP00000295408.4:p.Asp500Glu
ENST00000295408.8:c.1500T>A	ENSP00000295408.4:p.Asp500Glu
ENST00000409780.5:c.972T>A	ENSP00000387277.1:p.Asp324Glu
ENST00000421804.6:c.1500T>A	ENSP00000389152.2:p.Asp500Glu
ENST00000439966.5:c.*973T>A	ENSP00000402129.1:n.*973T>A
ENST00000473065.1:n.3T>A
ENST00000616902.4:c.469T>A	ENSP00000482824.1:p.Ser157Thr
NM_006343.2:c.1500T>A	NP_006334.2:p.Asp500Glu
XM_005263565.3:c.1500T>A	XP_005263622.1:p.Asp500Glu
XM_005263568.3:c.1500T>A	XP_005263625.1:p.Asp500Glu
XM_011510490.1:c.1311T>A	XP_011508792.1:p.Asp437Glu
XM_011510491.1:c.285T>A	XP_011508793.1:p.Asp95Glu
XM_005263565.4:c.1500T>A	XP_005263622.1:p.Asp500Glu
XM_005263568.4:c.1500T>A	XP_005263625.1:p.Asp500Glu
XM_011510490.3:c.1311T>A	XP_011508792.1:p.Asp437Glu
XM_017003164.1:c.1311T>A	XP_016858653.1:p.Asp437Glu
XM_017003165.2:c.285T>A	XP_016858654.1:p.Asp95Glu
NM_006343.3:c.1500T>A MANE Select	NP_006334.2:p.Asp500Glu