Canonical Allele Identifier: CA348229249

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705106A>T (hg19) ; chr2:g.111947529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947529A>T , CM000664.2:g.111947529A>T	GRCh38
NC_000002.11:g.112705106A>T , CM000664.1:g.112705106A>T	GRCh37
NC_000002.10:g.112421577A>T	NCBI36
NG_011607.1:g.53916A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.719A>T MANE Select	ENSP00000295408.4:p.Glu240Val
ENST00000295408.8:c.719A>T	ENSP00000295408.4:p.Glu240Val
ENST00000409780.5:c.191A>T	ENSP00000387277.1:p.Glu64Val
ENST00000421804.6:c.719A>T	ENSP00000389152.2:p.Glu240Val
ENST00000439966.5:c.*192A>T	ENSP00000402129.1:n.*192A>T
ENST00000616902.4:c.-497A>T	ENSP00000482824.1:n.-497A>T
NM_006343.2:c.719A>T	NP_006334.2:p.Glu240Val
XM_005263565.3:c.719A>T	XP_005263622.1:p.Glu240Val
XM_005263568.3:c.719A>T	XP_005263625.1:p.Glu240Val
XM_011510490.1:c.530A>T	XP_011508792.1:p.Glu177Val
XM_005263565.4:c.719A>T	XP_005263622.1:p.Glu240Val
XM_005263568.4:c.719A>T	XP_005263625.1:p.Glu240Val
XM_011510490.3:c.530A>T	XP_011508792.1:p.Glu177Val
XM_017003164.1:c.530A>T	XP_016858653.1:p.Glu177Val
XM_017003165.2:c.-549A>T	XP_016858654.1:n.-549A>T
NM_006343.3:c.719A>T MANE Select	NP_006334.2:p.Glu240Val