Canonical Allele Identifier: CA348231594

Gene: MERTK

Linked Data

• dbSNP Id: rs1467916312
• gnomAD v2: 2-112755041-A-G
• gnomAD v4: 2-111997464-A-G
• MyVariant Identifiers: chr2:g.112755041A>G (hg19) ; chr2:g.111997464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997464A>G , CM000664.2:g.111997464A>G	GRCh38
NC_000002.11:g.112755041A>G , CM000664.1:g.112755041A>G	GRCh37
NC_000002.10:g.112471512A>G	NCBI36
NG_011607.1:g.103851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1592A>G MANE Select	ENSP00000295408.4:p.Glu531Gly
ENST00000295408.8:c.1592A>G	ENSP00000295408.4:p.Glu531Gly
ENST00000409780.5:c.1064A>G	ENSP00000387277.1:p.Glu355Gly
ENST00000421804.6:c.1592A>G	ENSP00000389152.2:p.Glu531Gly
ENST00000439966.5:c.*1065A>G	ENSP00000402129.1:n.*1065A>G
ENST00000473065.1:n.95A>G
ENST00000616902.4:c.557A>G	ENSP00000482824.1:p.Glu186Gly
NM_006343.2:c.1592A>G	NP_006334.2:p.Glu531Gly
XM_005263565.3:c.1592A>G	XP_005263622.1:p.Glu531Gly
XM_005263568.3:c.1592A>G	XP_005263625.1:p.Glu531Gly
XM_011510490.1:c.1403A>G	XP_011508792.1:p.Glu468Gly
XM_011510491.1:c.377A>G	XP_011508793.1:p.Glu126Gly
XM_005263565.4:c.1592A>G	XP_005263622.1:p.Glu531Gly
XM_005263568.4:c.1592A>G	XP_005263625.1:p.Glu531Gly
XM_011510490.3:c.1403A>G	XP_011508792.1:p.Glu468Gly
XM_017003164.1:c.1403A>G	XP_016858653.1:p.Glu468Gly
XM_017003165.2:c.377A>G	XP_016858654.1:p.Glu126Gly
NM_006343.3:c.1592A>G MANE Select	NP_006334.2:p.Glu531Gly