Canonical Allele Identifier: CA348226741

Gene: MERTK

Linked Data

• gnomAD v4: 2-111929480-A-G
• MyVariant Identifiers: chr2:g.112687057A>G (hg19) ; chr2:g.111929480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929480A>G , CM000664.2:g.111929480A>G	GRCh38
NC_000002.11:g.112687057A>G , CM000664.1:g.112687057A>G	GRCh37
NC_000002.10:g.112403528A>G	NCBI36
NG_011607.1:g.35867A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.422A>G MANE Select	ENSP00000295408.4:p.His141Arg
ENST00000295408.8:c.422A>G	ENSP00000295408.4:p.His141Arg
ENST00000409780.5:c.-46-15480A>G	ENSP00000387277.1:n.-46-15480A>G
ENST00000421804.6:c.422A>G	ENSP00000389152.2:p.His141Arg
ENST00000439966.5:c.246+176A>G	ENSP00000402129.1:n.246+176A>G
ENST00000616902.4:c.-794A>G	ENSP00000482824.1:n.-794A>G
NM_006343.2:c.422A>G	NP_006334.2:p.His141Arg
XM_005263565.3:c.422A>G	XP_005263622.1:p.His141Arg
XM_005263568.3:c.422A>G	XP_005263625.1:p.His141Arg
XM_011510490.1:c.233A>G	XP_011508792.1:p.His78Arg
XM_005263565.4:c.422A>G	XP_005263622.1:p.His141Arg
XM_005263568.4:c.422A>G	XP_005263625.1:p.His141Arg
XM_011510490.3:c.233A>G	XP_011508792.1:p.His78Arg
XM_017003164.1:c.233A>G	XP_016858653.1:p.His78Arg
XM_017003165.2:c.-846A>G	XP_016858654.1:n.-846A>G
NM_006343.3:c.422A>G MANE Select	NP_006334.2:p.His141Arg