Canonical Allele Identifier: CA1831454

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1531349
• ClinVar RCV Id: RCV002099663
• dbSNP Id: rs745620597
• ExAC: 2:112754985 T / C
• gnomAD v2: 2-112754985-T-C
• gnomAD v4: 2-111997408-T-C
• MyVariant Identifiers: chr2:g.112754985T>C (hg19) ; chr2:g.111997408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997408T>C , CM000664.2:g.111997408T>C	GRCh38
NC_000002.11:g.112754985T>C , CM000664.1:g.112754985T>C	GRCh37
NC_000002.10:g.112471456T>C	NCBI36
NG_011607.1:g.103795T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1536T>C MANE Select	ENSP00000295408.4:p.Phe512=
ENST00000295408.8:c.1536T>C	ENSP00000295408.4:p.Phe512=
ENST00000409780.5:c.1008T>C	ENSP00000387277.1:p.Phe336=
ENST00000421804.6:c.1536T>C	ENSP00000389152.2:p.Phe512=
ENST00000439966.5:c.*1009T>C	ENSP00000402129.1:n.*1009T>C
ENST00000473065.1:n.39T>C
ENST00000616902.4:c.504+1T>C	ENSP00000482824.1:n.504+1T>C
NM_006343.2:c.1536T>C	NP_006334.2:p.Phe512=
XM_005263565.3:c.1536T>C	XP_005263622.1:p.Phe512=
XM_005263568.3:c.1536T>C	XP_005263625.1:p.Phe512=
XM_011510490.1:c.1347T>C	XP_011508792.1:p.Phe449=
XM_011510491.1:c.321T>C	XP_011508793.1:p.Phe107=
XM_005263565.4:c.1536T>C	XP_005263622.1:p.Phe512=
XM_005263568.4:c.1536T>C	XP_005263625.1:p.Phe512=
XM_011510490.3:c.1347T>C	XP_011508792.1:p.Phe449=
XM_017003164.1:c.1347T>C	XP_016858653.1:p.Phe449=
XM_017003165.2:c.321T>C	XP_016858654.1:p.Phe107=
NM_006343.3:c.1536T>C MANE Select	NP_006334.2:p.Phe512=