Canonical Allele Identifier: CA348229142

Gene: MERTK

Linked Data

• dbSNP Id: rs1327772385
• gnomAD v2: 2-112705060-G-C
• gnomAD v4: 2-111947483-G-C
• MyVariant Identifiers: chr2:g.112705060G>C (hg19) ; chr2:g.111947483G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947483G>C , CM000664.2:g.111947483G>C	GRCh38
NC_000002.11:g.112705060G>C , CM000664.1:g.112705060G>C	GRCh37
NC_000002.10:g.112421531G>C	NCBI36
NG_011607.1:g.53870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.673G>C MANE Select	ENSP00000295408.4:p.Glu225Gln
ENST00000295408.8:c.673G>C	ENSP00000295408.4:p.Glu225Gln
ENST00000409780.5:c.145G>C	ENSP00000387277.1:p.Glu49Gln
ENST00000421804.6:c.673G>C	ENSP00000389152.2:p.Glu225Gln
ENST00000439966.5:c.*146G>C	ENSP00000402129.1:n.*146G>C
ENST00000616902.4:c.-543G>C	ENSP00000482824.1:n.-543G>C
NM_006343.2:c.673G>C	NP_006334.2:p.Glu225Gln
XM_005263565.3:c.673G>C	XP_005263622.1:p.Glu225Gln
XM_005263568.3:c.673G>C	XP_005263625.1:p.Glu225Gln
XM_011510490.1:c.484G>C	XP_011508792.1:p.Glu162Gln
XM_005263565.4:c.673G>C	XP_005263622.1:p.Glu225Gln
XM_005263568.4:c.673G>C	XP_005263625.1:p.Glu225Gln
XM_011510490.3:c.484G>C	XP_011508792.1:p.Glu162Gln
XM_017003164.1:c.484G>C	XP_016858653.1:p.Glu162Gln
XM_017003165.2:c.-595G>C	XP_016858654.1:n.-595G>C
NM_006343.3:c.673G>C MANE Select	NP_006334.2:p.Glu225Gln