Canonical Allele Identifier: CA1831308

Gene: MERTK

Linked Data

• ClinVar Variation Id: 330753
• ClinVar RCV Id: RCV000347356 ; RCV001417923
• dbSNP Id: rs138908058
• ExAC: 2:112740536 G / A
• gnomAD v2: 2-112740536-G-A
• gnomAD v3: 2-111982959-G-A
• gnomAD v4: 2-111982959-G-A
• COSMIC: COSM3894531
• MyVariant Identifiers: chr2:g.112740536G>A (hg19) ; chr2:g.111982959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111982959G>A , CM000664.2:g.111982959G>A	GRCh38
NC_000002.11:g.112740536G>A , CM000664.1:g.112740536G>A	GRCh37
NC_000002.10:g.112457007G>A	NCBI36
NG_011607.1:g.89346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1262G>A MANE Select	ENSP00000295408.4:p.Arg421Gln
ENST00000295408.8:c.1262G>A	ENSP00000295408.4:p.Arg421Gln
ENST00000409780.5:c.734G>A	ENSP00000387277.1:p.Arg245Gln
ENST00000421804.6:c.1262G>A	ENSP00000389152.2:p.Arg421Gln
ENST00000439966.5:c.*735G>A	ENSP00000402129.1:n.*735G>A
ENST00000616902.4:c.47G>A	ENSP00000482824.1:p.Arg16Gln
NM_006343.2:c.1262G>A	NP_006334.2:p.Arg421Gln
XM_005263565.3:c.1262G>A	XP_005263622.1:p.Arg421Gln
XM_005263568.3:c.1262G>A	XP_005263625.1:p.Arg421Gln
XM_011510490.1:c.1073G>A	XP_011508792.1:p.Arg358Gln
XM_011510491.1:c.47G>A	XP_011508793.1:p.Arg16Gln
XM_005263565.4:c.1262G>A	XP_005263622.1:p.Arg421Gln
XM_005263568.4:c.1262G>A	XP_005263625.1:p.Arg421Gln
XM_011510490.3:c.1073G>A	XP_011508792.1:p.Arg358Gln
XM_017003164.1:c.1073G>A	XP_016858653.1:p.Arg358Gln
XM_017003165.2:c.47G>A	XP_016858654.1:p.Arg16Gln
NM_006343.3:c.1262G>A MANE Select	NP_006334.2:p.Arg421Gln