Canonical Allele Identifier: CA241210

Gene: MERTK

Linked Data

• ClinVar Variation Id: 194960
• ClinVar RCV Id: RCV000175453 ; RCV001001374 ; RCV001132911 ; RCV003895187
• dbSNP Id: rs2230516
• ExAC: 2:112786034 C / T
• gnomAD v2: 2-112786034-C-T
• gnomAD v3: 2-112028457-C-T
• gnomAD v4: 2-112028457-C-T
• MyVariant Identifiers: chr2:g.112786034C>T (hg19) ; chr2:g.112028457C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112028457C>T , CM000664.2:g.112028457C>T	GRCh38
NC_000002.11:g.112786034C>T , CM000664.1:g.112786034C>T	GRCh37
NC_000002.10:g.112502505C>T	NCBI36
NG_011607.1:g.134844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2593C>T MANE Select	ENSP00000295408.4:p.Arg865Trp
ENST00000295408.8:c.2593C>T	ENSP00000295408.4:p.Arg865Trp
ENST00000409780.5:c.2065C>T	ENSP00000387277.1:p.Arg689Trp
ENST00000421804.6:c.2593C>T	ENSP00000389152.2:p.Arg865Trp
ENST00000439966.5:c.*2066C>T	ENSP00000402129.1:n.*2066C>T
ENST00000449344.2:c.565C>T	ENSP00000412660.2:p.Arg189Trp
ENST00000616902.4:c.1666C>T	ENSP00000482824.1:p.Arg556Trp
NM_006343.2:c.2593C>T	NP_006334.2:p.Arg865Trp
XM_005263565.3:c.2486+6063C>T	XP_005263622.1:n.2486+6063C>T
XM_011510490.1:c.2404C>T	XP_011508792.1:p.Arg802Trp
XM_011510491.1:c.1378C>T	XP_011508793.1:p.Arg460Trp
XM_005263565.4:c.2486+6063C>T	XP_005263622.1:n.2486+6063C>T
XM_011510490.3:c.2404C>T	XP_011508792.1:p.Arg802Trp
XM_017003164.1:c.2404C>T	XP_016858653.1:p.Arg802Trp
XM_017003165.2:c.1378C>T	XP_016858654.1:p.Arg460Trp
NM_006343.3:c.2593C>T MANE Select	NP_006334.2:p.Arg865Trp