Canonical Allele Identifier: CA348233208

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112765996T>G (hg19) ; chr2:g.112008419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008419T>G , CM000664.2:g.112008419T>G	GRCh38
NC_000002.11:g.112765996T>G , CM000664.1:g.112765996T>G	GRCh37
NC_000002.10:g.112482467T>G	NCBI36
NG_011607.1:g.114806T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1904T>G MANE Select	ENSP00000295408.4:p.Leu635Arg
ENST00000295408.8:c.1904T>G	ENSP00000295408.4:p.Leu635Arg
ENST00000409780.5:c.1376T>G	ENSP00000387277.1:p.Leu459Arg
ENST00000421804.6:c.1904T>G	ENSP00000389152.2:p.Leu635Arg
ENST00000439966.5:c.*1377T>G	ENSP00000402129.1:n.*1377T>G
ENST00000616902.4:c.869T>G	ENSP00000482824.1:p.Leu290Arg
NM_006343.2:c.1904T>G	NP_006334.2:p.Leu635Arg
XM_005263565.3:c.1904T>G	XP_005263622.1:p.Leu635Arg
XM_005263568.3:c.1904T>G	XP_005263625.1:p.Leu635Arg
XM_011510490.1:c.1715T>G	XP_011508792.1:p.Leu572Arg
XM_011510491.1:c.689T>G	XP_011508793.1:p.Leu230Arg
XM_005263565.4:c.1904T>G	XP_005263622.1:p.Leu635Arg
XM_005263568.4:c.1904T>G	XP_005263625.1:p.Leu635Arg
XM_011510490.3:c.1715T>G	XP_011508792.1:p.Leu572Arg
XM_017003164.1:c.1715T>G	XP_016858653.1:p.Leu572Arg
XM_017003165.2:c.689T>G	XP_016858654.1:p.Leu230Arg
NM_006343.3:c.1904T>G MANE Select	NP_006334.2:p.Leu635Arg