Canonical Allele Identifier: CA1831458

Gene: MERTK

Linked Data

• ClinVar Variation Id: 330759
• ClinVar RCV Id: RCV000354460 ; RCV001511192 ; RCV001775774 ; RCV003888784
• dbSNP Id: rs2230515
• ExAC: 2:112755001 A / G
• gnomAD v2: 2-112755001-A-G
• gnomAD v3: 2-111997424-A-G
• gnomAD v4: 2-111997424-A-G
• MyVariant Identifiers: chr2:g.112755001A>G (hg19) ; chr2:g.111997424A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997424A>G , CM000664.2:g.111997424A>G	GRCh38
NC_000002.11:g.112755001A>G , CM000664.1:g.112755001A>G	GRCh37
NC_000002.10:g.112471472A>G	NCBI36
NG_011607.1:g.103811A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1552A>G MANE Select	ENSP00000295408.4:p.Ile518Val
ENST00000295408.8:c.1552A>G	ENSP00000295408.4:p.Ile518Val
ENST00000409780.5:c.1024A>G	ENSP00000387277.1:p.Ile342Val
ENST00000421804.6:c.1552A>G	ENSP00000389152.2:p.Ile518Val
ENST00000439966.5:c.*1025A>G	ENSP00000402129.1:n.*1025A>G
ENST00000473065.1:n.55A>G
ENST00000616902.4:c.517A>G	ENSP00000482824.1:p.Ile173Val
NM_006343.2:c.1552A>G	NP_006334.2:p.Ile518Val
XM_005263565.3:c.1552A>G	XP_005263622.1:p.Ile518Val
XM_005263568.3:c.1552A>G	XP_005263625.1:p.Ile518Val
XM_011510490.1:c.1363A>G	XP_011508792.1:p.Ile455Val
XM_011510491.1:c.337A>G	XP_011508793.1:p.Ile113Val
XM_005263565.4:c.1552A>G	XP_005263622.1:p.Ile518Val
XM_005263568.4:c.1552A>G	XP_005263625.1:p.Ile518Val
XM_011510490.3:c.1363A>G	XP_011508792.1:p.Ile455Val
XM_017003164.1:c.1363A>G	XP_016858653.1:p.Ile455Val
XM_017003165.2:c.337A>G	XP_016858654.1:p.Ile113Val
NM_006343.3:c.1552A>G MANE Select	NP_006334.2:p.Ile518Val