Canonical Allele Identifier: CA348229114

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1993406
• ClinVar RCV Id: RCV002801371
• dbSNP Id: rs1684980525
• MyVariant Identifiers: chr2:g.112705045G>A (hg19) ; chr2:g.111947468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947468G>A , CM000664.2:g.111947468G>A	GRCh38
NC_000002.11:g.112705045G>A , CM000664.1:g.112705045G>A	GRCh37
NC_000002.10:g.112421516G>A	NCBI36
NG_011607.1:g.53855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.658G>A MANE Select	ENSP00000295408.4:p.Ala220Thr
ENST00000295408.8:c.658G>A	ENSP00000295408.4:p.Ala220Thr
ENST00000409780.5:c.130G>A	ENSP00000387277.1:p.Ala44Thr
ENST00000421804.6:c.658G>A	ENSP00000389152.2:p.Ala220Thr
ENST00000439966.5:c.*131G>A	ENSP00000402129.1:n.*131G>A
ENST00000616902.4:c.-558G>A	ENSP00000482824.1:n.-558G>A
NM_006343.2:c.658G>A	NP_006334.2:p.Ala220Thr
XM_005263565.3:c.658G>A	XP_005263622.1:p.Ala220Thr
XM_005263568.3:c.658G>A	XP_005263625.1:p.Ala220Thr
XM_011510490.1:c.469G>A	XP_011508792.1:p.Ala157Thr
XM_005263565.4:c.658G>A	XP_005263622.1:p.Ala220Thr
XM_005263568.4:c.658G>A	XP_005263625.1:p.Ala220Thr
XM_011510490.3:c.469G>A	XP_011508792.1:p.Ala157Thr
XM_017003164.1:c.469G>A	XP_016858653.1:p.Ala157Thr
XM_017003165.2:c.-610G>A	XP_016858654.1:n.-610G>A
NM_006343.3:c.658G>A MANE Select	NP_006334.2:p.Ala220Thr