Canonical Allele Identifier: CA348231394

Gene: MERTK

Linked Data

• dbSNP Id: rs1290441519
• gnomAD v2: 2-112754983-T-A
• gnomAD v4: 2-111997406-T-A
• MyVariant Identifiers: chr2:g.112754983T>A (hg19) ; chr2:g.111997406T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997406T>A , CM000664.2:g.111997406T>A	GRCh38
NC_000002.11:g.112754983T>A , CM000664.1:g.112754983T>A	GRCh37
NC_000002.10:g.112471454T>A	NCBI36
NG_011607.1:g.103793T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1534T>A MANE Select	ENSP00000295408.4:p.Phe512Ile
ENST00000295408.8:c.1534T>A	ENSP00000295408.4:p.Phe512Ile
ENST00000409780.5:c.1006T>A	ENSP00000387277.1:p.Phe336Ile
ENST00000421804.6:c.1534T>A	ENSP00000389152.2:p.Phe512Ile
ENST00000439966.5:c.*1007T>A	ENSP00000402129.1:n.*1007T>A
ENST00000473065.1:n.37T>A
ENST00000616902.4:c.503T>A	ENSP00000482824.1:p.Ile168Asn
NM_006343.2:c.1534T>A	NP_006334.2:p.Phe512Ile
XM_005263565.3:c.1534T>A	XP_005263622.1:p.Phe512Ile
XM_005263568.3:c.1534T>A	XP_005263625.1:p.Phe512Ile
XM_011510490.1:c.1345T>A	XP_011508792.1:p.Phe449Ile
XM_011510491.1:c.319T>A	XP_011508793.1:p.Phe107Ile
XM_005263565.4:c.1534T>A	XP_005263622.1:p.Phe512Ile
XM_005263568.4:c.1534T>A	XP_005263625.1:p.Phe512Ile
XM_011510490.3:c.1345T>A	XP_011508792.1:p.Phe449Ile
XM_017003164.1:c.1345T>A	XP_016858653.1:p.Phe449Ile
XM_017003165.2:c.319T>A	XP_016858654.1:p.Phe107Ile
NM_006343.3:c.1534T>A MANE Select	NP_006334.2:p.Phe512Ile