Canonical Allele Identifier: CA1831125

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1504929
• ClinVar RCV Id: RCV002047932
• dbSNP Id: rs377346429
• ExAC: 2:112705070 A / G
• gnomAD v2: 2-112705070-A-G
• gnomAD v3: 2-111947493-A-G
• gnomAD v4: 2-111947493-A-G
• MyVariant Identifiers: chr2:g.112705070A>G (hg19) ; chr2:g.111947493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947493A>G , CM000664.2:g.111947493A>G	GRCh38
NC_000002.11:g.112705070A>G , CM000664.1:g.112705070A>G	GRCh37
NC_000002.10:g.112421541A>G	NCBI36
NG_011607.1:g.53880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.683A>G MANE Select	ENSP00000295408.4:p.Asn228Ser
ENST00000295408.8:c.683A>G	ENSP00000295408.4:p.Asn228Ser
ENST00000409780.5:c.155A>G	ENSP00000387277.1:p.Asn52Ser
ENST00000421804.6:c.683A>G	ENSP00000389152.2:p.Asn228Ser
ENST00000439966.5:c.*156A>G	ENSP00000402129.1:n.*156A>G
ENST00000616902.4:c.-533A>G	ENSP00000482824.1:n.-533A>G
NM_006343.2:c.683A>G	NP_006334.2:p.Asn228Ser
XM_005263565.3:c.683A>G	XP_005263622.1:p.Asn228Ser
XM_005263568.3:c.683A>G	XP_005263625.1:p.Asn228Ser
XM_011510490.1:c.494A>G	XP_011508792.1:p.Asn165Ser
XM_005263565.4:c.683A>G	XP_005263622.1:p.Asn228Ser
XM_005263568.4:c.683A>G	XP_005263625.1:p.Asn228Ser
XM_011510490.3:c.494A>G	XP_011508792.1:p.Asn165Ser
XM_017003164.1:c.494A>G	XP_016858653.1:p.Asn165Ser
XM_017003165.2:c.-585A>G	XP_016858654.1:n.-585A>G
NM_006343.3:c.683A>G MANE Select	NP_006334.2:p.Asn228Ser