Canonical Allele Identifier: CA348226515

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112687000T>A (hg19) ; chr2:g.111929423T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929423T>A , CM000664.2:g.111929423T>A	GRCh38
NC_000002.11:g.112687000T>A , CM000664.1:g.112687000T>A	GRCh37
NC_000002.10:g.112403471T>A	NCBI36
NG_011607.1:g.35810T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.365T>A MANE Select	ENSP00000295408.4:p.Ile122Lys
ENST00000295408.8:c.365T>A	ENSP00000295408.4:p.Ile122Lys
ENST00000409780.5:c.-46-15537T>A	ENSP00000387277.1:n.-46-15537T>A
ENST00000421804.6:c.365T>A	ENSP00000389152.2:p.Ile122Lys
ENST00000439966.5:c.246+119T>A	ENSP00000402129.1:n.246+119T>A
ENST00000616902.4:c.-851T>A	ENSP00000482824.1:n.-851T>A
NM_006343.2:c.365T>A	NP_006334.2:p.Ile122Lys
XM_005263565.3:c.365T>A	XP_005263622.1:p.Ile122Lys
XM_005263568.3:c.365T>A	XP_005263625.1:p.Ile122Lys
XM_011510490.1:c.176T>A	XP_011508792.1:p.Ile59Lys
XM_005263565.4:c.365T>A	XP_005263622.1:p.Ile122Lys
XM_005263568.4:c.365T>A	XP_005263625.1:p.Ile122Lys
XM_011510490.3:c.176T>A	XP_011508792.1:p.Ile59Lys
XM_017003164.1:c.176T>A	XP_016858653.1:p.Ile59Lys
XM_017003165.2:c.-903T>A	XP_016858654.1:n.-903T>A
NM_006343.3:c.365T>A MANE Select	NP_006334.2:p.Ile122Lys