Canonical Allele Identifier: CA348231315

Gene: MERTK

Linked Data

• ClinVar Variation Id: 3125359
• ClinVar RCV Id: RCV004424199
• MyVariant Identifiers: chr2:g.112754966T>C (hg19) ; chr2:g.111997389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997389T>C , CM000664.2:g.111997389T>C	GRCh38
NC_000002.11:g.112754966T>C , CM000664.1:g.112754966T>C	GRCh37
NC_000002.10:g.112471437T>C	NCBI36
NG_011607.1:g.103776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1517T>C MANE Select	ENSP00000295408.4:p.Phe506Ser
ENST00000295408.8:c.1517T>C	ENSP00000295408.4:p.Phe506Ser
ENST00000409780.5:c.989T>C	ENSP00000387277.1:p.Phe330Ser
ENST00000421804.6:c.1517T>C	ENSP00000389152.2:p.Phe506Ser
ENST00000439966.5:c.*990T>C	ENSP00000402129.1:n.*990T>C
ENST00000473065.1:n.20T>C
ENST00000616902.4:c.486T>C	ENSP00000482824.1:p.Leu162=
NM_006343.2:c.1517T>C	NP_006334.2:p.Phe506Ser
XM_005263565.3:c.1517T>C	XP_005263622.1:p.Phe506Ser
XM_005263568.3:c.1517T>C	XP_005263625.1:p.Phe506Ser
XM_011510490.1:c.1328T>C	XP_011508792.1:p.Phe443Ser
XM_011510491.1:c.302T>C	XP_011508793.1:p.Phe101Ser
XM_005263565.4:c.1517T>C	XP_005263622.1:p.Phe506Ser
XM_005263568.4:c.1517T>C	XP_005263625.1:p.Phe506Ser
XM_011510490.3:c.1328T>C	XP_011508792.1:p.Phe443Ser
XM_017003164.1:c.1328T>C	XP_016858653.1:p.Phe443Ser
XM_017003165.2:c.302T>C	XP_016858654.1:p.Phe101Ser
NM_006343.3:c.1517T>C MANE Select	NP_006334.2:p.Phe506Ser