Canonical Allele Identifier: CA348228974

Gene: MERTK

Linked Data

• ClinVar Variation Id: 955168
• ClinVar RCV Id: RCV001227761 ; RCV001331568
• dbSNP Id: rs1573591956
• MyVariant Identifiers: chr2:g.112704984T>A (hg19) ; chr2:g.111947407T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947407T>A , CM000664.2:g.111947407T>A	GRCh38
NC_000002.11:g.112704984T>A , CM000664.1:g.112704984T>A	GRCh37
NC_000002.10:g.112421455T>A	NCBI36
NG_011607.1:g.53794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.597T>A MANE Select	ENSP00000295408.4:p.Phe199Leu
ENST00000295408.8:c.597T>A	ENSP00000295408.4:p.Phe199Leu
ENST00000409780.5:c.69T>A	ENSP00000387277.1:p.Phe23Leu
ENST00000421804.6:c.597T>A	ENSP00000389152.2:p.Phe199Leu
ENST00000439966.5:c.*70T>A	ENSP00000402129.1:n.*70T>A
ENST00000616902.4:c.-619T>A	ENSP00000482824.1:n.-619T>A
NM_006343.2:c.597T>A	NP_006334.2:p.Phe199Leu
XM_005263565.3:c.597T>A	XP_005263622.1:p.Phe199Leu
XM_005263568.3:c.597T>A	XP_005263625.1:p.Phe199Leu
XM_011510490.1:c.408T>A	XP_011508792.1:p.Phe136Leu
XM_005263565.4:c.597T>A	XP_005263622.1:p.Phe199Leu
XM_005263568.4:c.597T>A	XP_005263625.1:p.Phe199Leu
XM_011510490.3:c.408T>A	XP_011508792.1:p.Phe136Leu
XM_017003164.1:c.408T>A	XP_016858653.1:p.Phe136Leu
XM_017003165.2:c.-671T>A	XP_016858654.1:n.-671T>A
NM_006343.3:c.597T>A MANE Select	NP_006334.2:p.Phe199Leu