Canonical Allele Identifier: CA348229286

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1213858
• ClinVar RCV Id: RCV001591800
• dbSNP Id: rs2104704713
• MyVariant Identifiers: chr2:g.112705121C>A (hg19) ; chr2:g.111947544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947544C>A , CM000664.2:g.111947544C>A	GRCh38
NC_000002.11:g.112705121C>A , CM000664.1:g.112705121C>A	GRCh37
NC_000002.10:g.112421592C>A	NCBI36
NG_011607.1:g.53931C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.734C>A MANE Select	ENSP00000295408.4:p.Ser245Tyr
ENST00000295408.8:c.734C>A	ENSP00000295408.4:p.Ser245Tyr
ENST00000409780.5:c.206C>A	ENSP00000387277.1:p.Ser69Tyr
ENST00000421804.6:c.734C>A	ENSP00000389152.2:p.Ser245Tyr
ENST00000439966.5:c.*207C>A	ENSP00000402129.1:n.*207C>A
ENST00000616902.4:c.-482C>A	ENSP00000482824.1:n.-482C>A
NM_006343.2:c.734C>A	NP_006334.2:p.Ser245Tyr
XM_005263565.3:c.734C>A	XP_005263622.1:p.Ser245Tyr
XM_005263568.3:c.734C>A	XP_005263625.1:p.Ser245Tyr
XM_011510490.1:c.545C>A	XP_011508792.1:p.Ser182Tyr
XM_005263565.4:c.734C>A	XP_005263622.1:p.Ser245Tyr
XM_005263568.4:c.734C>A	XP_005263625.1:p.Ser245Tyr
XM_011510490.3:c.545C>A	XP_011508792.1:p.Ser182Tyr
XM_017003164.1:c.545C>A	XP_016858653.1:p.Ser182Tyr
XM_017003165.2:c.-534C>A	XP_016858654.1:n.-534C>A
NM_006343.3:c.734C>A MANE Select	NP_006334.2:p.Ser245Tyr