Canonical Allele Identifier: CA348231270

Gene: MERTK

Linked Data

• ClinVar Variation Id: 961028
• ClinVar RCV Id: RCV001234661
• dbSNP Id: rs1676769706
• MyVariant Identifiers: chr2:g.112754956C>A (hg19) ; chr2:g.111997379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997379C>A , CM000664.2:g.111997379C>A	GRCh38
NC_000002.11:g.112754956C>A , CM000664.1:g.112754956C>A	GRCh37
NC_000002.10:g.112471427C>A	NCBI36
NG_011607.1:g.103766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1507C>A MANE Select	ENSP00000295408.4:p.Leu503Ile
ENST00000295408.8:c.1507C>A	ENSP00000295408.4:p.Leu503Ile
ENST00000409780.5:c.979C>A	ENSP00000387277.1:p.Leu327Ile
ENST00000421804.6:c.1507C>A	ENSP00000389152.2:p.Leu503Ile
ENST00000439966.5:c.*980C>A	ENSP00000402129.1:n.*980C>A
ENST00000473065.1:n.10C>A
ENST00000616902.4:c.476C>A	ENSP00000482824.1:p.Ala159Asp
NM_006343.2:c.1507C>A	NP_006334.2:p.Leu503Ile
XM_005263565.3:c.1507C>A	XP_005263622.1:p.Leu503Ile
XM_005263568.3:c.1507C>A	XP_005263625.1:p.Leu503Ile
XM_011510490.1:c.1318C>A	XP_011508792.1:p.Leu440Ile
XM_011510491.1:c.292C>A	XP_011508793.1:p.Leu98Ile
XM_005263565.4:c.1507C>A	XP_005263622.1:p.Leu503Ile
XM_005263568.4:c.1507C>A	XP_005263625.1:p.Leu503Ile
XM_011510490.3:c.1318C>A	XP_011508792.1:p.Leu440Ile
XM_017003164.1:c.1318C>A	XP_016858653.1:p.Leu440Ile
XM_017003165.2:c.292C>A	XP_016858654.1:p.Leu98Ile
NM_006343.3:c.1507C>A MANE Select	NP_006334.2:p.Leu503Ile