Canonical Allele Identifier: CA1831453

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1651249
• ClinVar RCV Id: RCV002151653
• dbSNP Id: rs774102970
• ExAC: 2:112754982 A / G
• gnomAD v2: 2-112754982-A-G
• gnomAD v3: 2-111997405-A-G
• gnomAD v4: 2-111997405-A-G
• MyVariant Identifiers: chr2:g.112754982A>G (hg19) ; chr2:g.111997405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997405A>G , CM000664.2:g.111997405A>G	GRCh38
NC_000002.11:g.112754982A>G , CM000664.1:g.112754982A>G	GRCh37
NC_000002.10:g.112471453A>G	NCBI36
NG_011607.1:g.103792A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1533A>G MANE Select	ENSP00000295408.4:p.Gly511=
ENST00000295408.8:c.1533A>G	ENSP00000295408.4:p.Gly511=
ENST00000409780.5:c.1005A>G	ENSP00000387277.1:p.Gly335=
ENST00000421804.6:c.1533A>G	ENSP00000389152.2:p.Gly511=
ENST00000439966.5:c.*1006A>G	ENSP00000402129.1:n.*1006A>G
ENST00000473065.1:n.36A>G
ENST00000616902.4:c.502A>G	ENSP00000482824.1:p.Ile168Val
NM_006343.2:c.1533A>G	NP_006334.2:p.Gly511=
XM_005263565.3:c.1533A>G	XP_005263622.1:p.Gly511=
XM_005263568.3:c.1533A>G	XP_005263625.1:p.Gly511=
XM_011510490.1:c.1344A>G	XP_011508792.1:p.Gly448=
XM_011510491.1:c.318A>G	XP_011508793.1:p.Gly106=
XM_005263565.4:c.1533A>G	XP_005263622.1:p.Gly511=
XM_005263568.4:c.1533A>G	XP_005263625.1:p.Gly511=
XM_011510490.3:c.1344A>G	XP_011508792.1:p.Gly448=
XM_017003164.1:c.1344A>G	XP_016858653.1:p.Gly448=
XM_017003165.2:c.318A>G	XP_016858654.1:p.Gly106=
NM_006343.3:c.1533A>G MANE Select	NP_006334.2:p.Gly511=