Canonical Allele Identifier: CA348229146

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705061A>T (hg19) ; chr2:g.111947484A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947484A>T , CM000664.2:g.111947484A>T	GRCh38
NC_000002.11:g.112705061A>T , CM000664.1:g.112705061A>T	GRCh37
NC_000002.10:g.112421532A>T	NCBI36
NG_011607.1:g.53871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.674A>T MANE Select	ENSP00000295408.4:p.Glu225Val
ENST00000295408.8:c.674A>T	ENSP00000295408.4:p.Glu225Val
ENST00000409780.5:c.146A>T	ENSP00000387277.1:p.Glu49Val
ENST00000421804.6:c.674A>T	ENSP00000389152.2:p.Glu225Val
ENST00000439966.5:c.*147A>T	ENSP00000402129.1:n.*147A>T
ENST00000616902.4:c.-542A>T	ENSP00000482824.1:n.-542A>T
NM_006343.2:c.674A>T	NP_006334.2:p.Glu225Val
XM_005263565.3:c.674A>T	XP_005263622.1:p.Glu225Val
XM_005263568.3:c.674A>T	XP_005263625.1:p.Glu225Val
XM_011510490.1:c.485A>T	XP_011508792.1:p.Glu162Val
XM_005263565.4:c.674A>T	XP_005263622.1:p.Glu225Val
XM_005263568.4:c.674A>T	XP_005263625.1:p.Glu225Val
XM_011510490.3:c.485A>T	XP_011508792.1:p.Glu162Val
XM_017003164.1:c.485A>T	XP_016858653.1:p.Glu162Val
XM_017003165.2:c.-594A>T	XP_016858654.1:n.-594A>T
NM_006343.3:c.674A>T MANE Select	NP_006334.2:p.Glu225Val