Canonical Allele Identifier: CA348233157

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2203135
• ClinVar RCV Id: RCV002651502
• dbSNP Id: rs543947091
• gnomAD v2: 2-112765985-C-G
• gnomAD v4: 2-112008408-C-G
• MyVariant Identifiers: chr2:g.112765985C>G (hg19) ; chr2:g.112008408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008408C>G , CM000664.2:g.112008408C>G	GRCh38
NC_000002.11:g.112765985C>G , CM000664.1:g.112765985C>G	GRCh37
NC_000002.10:g.112482456C>G	NCBI36
NG_011607.1:g.114795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1893C>G MANE Select	ENSP00000295408.4:p.Ile631Met
ENST00000295408.8:c.1893C>G	ENSP00000295408.4:p.Ile631Met
ENST00000409780.5:c.1365C>G	ENSP00000387277.1:p.Ile455Met
ENST00000421804.6:c.1893C>G	ENSP00000389152.2:p.Ile631Met
ENST00000439966.5:c.*1366C>G	ENSP00000402129.1:n.*1366C>G
ENST00000616902.4:c.858C>G	ENSP00000482824.1:p.Ile286Met
NM_006343.2:c.1893C>G	NP_006334.2:p.Ile631Met
XM_005263565.3:c.1893C>G	XP_005263622.1:p.Ile631Met
XM_005263568.3:c.1893C>G	XP_005263625.1:p.Ile631Met
XM_011510490.1:c.1704C>G	XP_011508792.1:p.Ile568Met
XM_011510491.1:c.678C>G	XP_011508793.1:p.Ile226Met
XM_005263565.4:c.1893C>G	XP_005263622.1:p.Ile631Met
XM_005263568.4:c.1893C>G	XP_005263625.1:p.Ile631Met
XM_011510490.3:c.1704C>G	XP_011508792.1:p.Ile568Met
XM_017003164.1:c.1704C>G	XP_016858653.1:p.Ile568Met
XM_017003165.2:c.678C>G	XP_016858654.1:p.Ile226Met
NM_006343.3:c.1893C>G MANE Select	NP_006334.2:p.Ile631Met