Canonical Allele Identifier: CA348229008

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112704998A>T (hg19) ; chr2:g.111947421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947421A>T , CM000664.2:g.111947421A>T	GRCh38
NC_000002.11:g.112704998A>T , CM000664.1:g.112704998A>T	GRCh37
NC_000002.10:g.112421469A>T	NCBI36
NG_011607.1:g.53808A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.611A>T MANE Select	ENSP00000295408.4:p.Glu204Val
ENST00000295408.8:c.611A>T	ENSP00000295408.4:p.Glu204Val
ENST00000409780.5:c.83A>T	ENSP00000387277.1:p.Glu28Val
ENST00000421804.6:c.611A>T	ENSP00000389152.2:p.Glu204Val
ENST00000439966.5:c.*84A>T	ENSP00000402129.1:n.*84A>T
ENST00000616902.4:c.-605A>T	ENSP00000482824.1:n.-605A>T
NM_006343.2:c.611A>T	NP_006334.2:p.Glu204Val
XM_005263565.3:c.611A>T	XP_005263622.1:p.Glu204Val
XM_005263568.3:c.611A>T	XP_005263625.1:p.Glu204Val
XM_011510490.1:c.422A>T	XP_011508792.1:p.Glu141Val
XM_005263565.4:c.611A>T	XP_005263622.1:p.Glu204Val
XM_005263568.4:c.611A>T	XP_005263625.1:p.Glu204Val
XM_011510490.3:c.422A>T	XP_011508792.1:p.Glu141Val
XM_017003164.1:c.422A>T	XP_016858653.1:p.Glu141Val
XM_017003165.2:c.-657A>T	XP_016858654.1:n.-657A>T
NM_006343.3:c.611A>T MANE Select	NP_006334.2:p.Glu204Val