Canonical Allele Identifier: CA348231044

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1562057
• ClinVar RCV Id: RCV002212302
• dbSNP Id: rs2104401880
• gnomAD v4: 2-111997345-T-A
• MyVariant Identifiers: chr2:g.112754922T>A (hg19) ; chr2:g.111997345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997345T>A , CM000664.2:g.111997345T>A	GRCh38
NC_000002.11:g.112754922T>A , CM000664.1:g.112754922T>A	GRCh37
NC_000002.10:g.112471393T>A	NCBI36
NG_011607.1:g.103732T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1473T>A MANE Select	ENSP00000295408.4:p.Ser491=
ENST00000295408.8:c.1473T>A	ENSP00000295408.4:p.Ser491=
ENST00000409780.5:c.945T>A	ENSP00000387277.1:p.Ser315=
ENST00000421804.6:c.1473T>A	ENSP00000389152.2:p.Ser491=
ENST00000439966.5:c.*946T>A	ENSP00000402129.1:n.*946T>A
ENST00000616902.4:c.442T>A	ENSP00000482824.1:p.Phe148Ile
NM_006343.2:c.1473T>A	NP_006334.2:p.Ser491=
XM_005263565.3:c.1473T>A	XP_005263622.1:p.Ser491=
XM_005263568.3:c.1473T>A	XP_005263625.1:p.Ser491=
XM_011510490.1:c.1284T>A	XP_011508792.1:p.Ser428=
XM_011510491.1:c.258T>A	XP_011508793.1:p.Ser86=
XM_005263565.4:c.1473T>A	XP_005263622.1:p.Ser491=
XM_005263568.4:c.1473T>A	XP_005263625.1:p.Ser491=
XM_011510490.3:c.1284T>A	XP_011508792.1:p.Ser428=
XM_017003164.1:c.1284T>A	XP_016858653.1:p.Ser428=
XM_017003165.2:c.258T>A	XP_016858654.1:p.Ser86=
NM_006343.3:c.1473T>A MANE Select	NP_006334.2:p.Ser491=