Canonical Allele Identifier: CA348229232

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705099G>C (hg19) ; chr2:g.111947522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947522G>C , CM000664.2:g.111947522G>C	GRCh38
NC_000002.11:g.112705099G>C , CM000664.1:g.112705099G>C	GRCh37
NC_000002.10:g.112421570G>C	NCBI36
NG_011607.1:g.53909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.712G>C MANE Select	ENSP00000295408.4:p.Val238Leu
ENST00000295408.8:c.712G>C	ENSP00000295408.4:p.Val238Leu
ENST00000409780.5:c.184G>C	ENSP00000387277.1:p.Val62Leu
ENST00000421804.6:c.712G>C	ENSP00000389152.2:p.Val238Leu
ENST00000439966.5:c.*185G>C	ENSP00000402129.1:n.*185G>C
ENST00000616902.4:c.-504G>C	ENSP00000482824.1:n.-504G>C
NM_006343.2:c.712G>C	NP_006334.2:p.Val238Leu
XM_005263565.3:c.712G>C	XP_005263622.1:p.Val238Leu
XM_005263568.3:c.712G>C	XP_005263625.1:p.Val238Leu
XM_011510490.1:c.523G>C	XP_011508792.1:p.Val175Leu
XM_005263565.4:c.712G>C	XP_005263622.1:p.Val238Leu
XM_005263568.4:c.712G>C	XP_005263625.1:p.Val238Leu
XM_011510490.3:c.523G>C	XP_011508792.1:p.Val175Leu
XM_017003164.1:c.523G>C	XP_016858653.1:p.Val175Leu
XM_017003165.2:c.-556G>C	XP_016858654.1:n.-556G>C
NM_006343.3:c.712G>C MANE Select	NP_006334.2:p.Val238Leu