Canonical Allele Identifier: CA348228968

Gene: MERTK

Linked Data

• dbSNP Id: rs1242718288
• gnomAD v3: 2-111947405-T-A
• gnomAD v4: 2-111947405-T-A
• MyVariant Identifiers: chr2:g.112704982T>A (hg19) ; chr2:g.111947405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947405T>A , CM000664.2:g.111947405T>A	GRCh38
NC_000002.11:g.112704982T>A , CM000664.1:g.112704982T>A	GRCh37
NC_000002.10:g.112421453T>A	NCBI36
NG_011607.1:g.53792T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.595T>A MANE Select	ENSP00000295408.4:p.Phe199Ile
ENST00000295408.8:c.595T>A	ENSP00000295408.4:p.Phe199Ile
ENST00000409780.5:c.67T>A	ENSP00000387277.1:p.Phe23Ile
ENST00000421804.6:c.595T>A	ENSP00000389152.2:p.Phe199Ile
ENST00000439966.5:c.*68T>A	ENSP00000402129.1:n.*68T>A
ENST00000616902.4:c.-621T>A	ENSP00000482824.1:n.-621T>A
NM_006343.2:c.595T>A	NP_006334.2:p.Phe199Ile
XM_005263565.3:c.595T>A	XP_005263622.1:p.Phe199Ile
XM_005263568.3:c.595T>A	XP_005263625.1:p.Phe199Ile
XM_011510490.1:c.406T>A	XP_011508792.1:p.Phe136Ile
XM_005263565.4:c.595T>A	XP_005263622.1:p.Phe199Ile
XM_005263568.4:c.595T>A	XP_005263625.1:p.Phe199Ile
XM_011510490.3:c.406T>A	XP_011508792.1:p.Phe136Ile
XM_017003164.1:c.406T>A	XP_016858653.1:p.Phe136Ile
XM_017003165.2:c.-673T>A	XP_016858654.1:n.-673T>A
NM_006343.3:c.595T>A MANE Select	NP_006334.2:p.Phe199Ile