Canonical Allele Identifier: CA428270400

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2809527
• ClinVar RCV Id: RCV003679987 ; RCV003889316
• dbSNP Id: rs1265437249
• gnomAD v4: 2-111947542-A-G
• MyVariant Identifiers: chr2:g.112705119A>G (hg19) ; chr2:g.111947542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947542A>G , CM000664.2:g.111947542A>G	GRCh38
NC_000002.11:g.112705119A>G , CM000664.1:g.112705119A>G	GRCh37
NC_000002.10:g.112421590A>G	NCBI36
NG_011607.1:g.53929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.732A>G MANE Select	ENSP00000295408.4:p.Lys244=
ENST00000295408.8:c.732A>G	ENSP00000295408.4:p.Lys244=
ENST00000409780.5:c.204A>G	ENSP00000387277.1:p.Lys68=
ENST00000421804.6:c.732A>G	ENSP00000389152.2:p.Lys244=
ENST00000439966.5:c.*205A>G	ENSP00000402129.1:n.*205A>G
ENST00000616902.4:c.-484A>G	ENSP00000482824.1:n.-484A>G
NM_006343.2:c.732A>G	NP_006334.2:p.Lys244=
XM_005263565.3:c.732A>G	XP_005263622.1:p.Lys244=
XM_005263568.3:c.732A>G	XP_005263625.1:p.Lys244=
XM_011510490.1:c.543A>G	XP_011508792.1:p.Lys181=
XM_005263565.4:c.732A>G	XP_005263622.1:p.Lys244=
XM_005263568.4:c.732A>G	XP_005263625.1:p.Lys244=
XM_011510490.3:c.543A>G	XP_011508792.1:p.Lys181=
XM_017003164.1:c.543A>G	XP_016858653.1:p.Lys181=
XM_017003165.2:c.-536A>G	XP_016858654.1:n.-536A>G
NM_006343.3:c.732A>G MANE Select	NP_006334.2:p.Lys244=