Canonical Allele Identifier: CA228917

Gene: MERTK

Linked Data

• ClinVar Variation Id: 100582
• ClinVar RCV Id: RCV000086965 ; RCV001131835 ; RCV003888502
• dbSNP Id: rs34072093
• ExAC: 2:112725747 G / A
• gnomAD v2: 2-112725747-G-A
• gnomAD v3: 2-111968170-G-A
• gnomAD v4: 2-111968170-G-A
• COSMIC: COSM1398795
• MyVariant Identifiers: chr2:g.112725747G>A (hg19) ; chr2:g.111968170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111968170G>A , CM000664.2:g.111968170G>A	GRCh38
NC_000002.11:g.112725747G>A , CM000664.1:g.112725747G>A	GRCh37
NC_000002.10:g.112442218G>A	NCBI36
NG_011607.1:g.74557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.878G>A MANE Select	ENSP00000295408.4:p.Arg293His
ENST00000295408.8:c.878G>A	ENSP00000295408.4:p.Arg293His
ENST00000409780.5:c.350G>A	ENSP00000387277.1:p.Arg117His
ENST00000421804.6:c.878G>A	ENSP00000389152.2:p.Arg293His
ENST00000439966.5:c.*351G>A	ENSP00000402129.1:n.*351G>A
ENST00000616902.4:c.-338G>A	ENSP00000482824.1:n.-338G>A
NM_006343.2:c.878G>A	NP_006334.2:p.Arg293His
XM_005263565.3:c.878G>A	XP_005263622.1:p.Arg293His
XM_005263568.3:c.878G>A	XP_005263625.1:p.Arg293His
XM_011510490.1:c.689G>A	XP_011508792.1:p.Arg230His
XM_005263565.4:c.878G>A	XP_005263622.1:p.Arg293His
XM_005263568.4:c.878G>A	XP_005263625.1:p.Arg293His
XM_011510490.3:c.689G>A	XP_011508792.1:p.Arg230His
XM_017003164.1:c.689G>A	XP_016858653.1:p.Arg230His
XM_017003165.2:c.-390G>A	XP_016858654.1:n.-390G>A
NM_006343.3:c.878G>A MANE Select	NP_006334.2:p.Arg293His