Canonical Allele Identifier: CA53570974

Gene: MERTK

Linked Data

• dbSNP Id: rs868703580
• gnomAD v3: 2-111947528-G-A
• gnomAD v4: 2-111947528-G-A
• COSMIC: COSM3836587 ; COSM5834233
• MyVariant Identifiers: chr2:g.112705105G>A (hg19) ; chr2:g.111947528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947528G>A , CM000664.2:g.111947528G>A	GRCh38
NC_000002.11:g.112705105G>A , CM000664.1:g.112705105G>A	GRCh37
NC_000002.10:g.112421576G>A	NCBI36
NG_011607.1:g.53915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.718G>A MANE Select	ENSP00000295408.4:p.Glu240Lys
ENST00000295408.8:c.718G>A	ENSP00000295408.4:p.Glu240Lys
ENST00000409780.5:c.190G>A	ENSP00000387277.1:p.Glu64Lys
ENST00000421804.6:c.718G>A	ENSP00000389152.2:p.Glu240Lys
ENST00000439966.5:c.*191G>A	ENSP00000402129.1:n.*191G>A
ENST00000616902.4:c.-498G>A	ENSP00000482824.1:n.-498G>A
NM_006343.2:c.718G>A	NP_006334.2:p.Glu240Lys
XM_005263565.3:c.718G>A	XP_005263622.1:p.Glu240Lys
XM_005263568.3:c.718G>A	XP_005263625.1:p.Glu240Lys
XM_011510490.1:c.529G>A	XP_011508792.1:p.Glu177Lys
XM_005263565.4:c.718G>A	XP_005263622.1:p.Glu240Lys
XM_005263568.4:c.718G>A	XP_005263625.1:p.Glu240Lys
XM_011510490.3:c.529G>A	XP_011508792.1:p.Glu177Lys
XM_017003164.1:c.529G>A	XP_016858653.1:p.Glu177Lys
XM_017003165.2:c.-550G>A	XP_016858654.1:n.-550G>A
NM_006343.3:c.718G>A MANE Select	NP_006334.2:p.Glu240Lys