Canonical Allele Identifier: CA1831727

Gene: MERTK

Linked Data

• ClinVar Variation Id: 437995
• ClinVar RCV Id: RCV000504691 ; RCV001049512 ; RCV001074082 ; RCV002289688
• dbSNP Id: rs541717028
• ExAC: 2:112777074 C / T
• gnomAD v2: 2-112777074-C-T
• gnomAD v3: 2-112019497-C-T
• gnomAD v4: 2-112019497-C-T
• COSMIC: COSM1669213 ; COSM4302033
• MyVariant Identifiers: chr2:g.112777074C>T (hg19) ; chr2:g.112019497C>T (hg38)
• PubMed: PMID:15111602 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112019497C>T , CM000664.2:g.112019497C>T	GRCh38
NC_000002.11:g.112777074C>T , CM000664.1:g.112777074C>T	GRCh37
NC_000002.10:g.112493545C>T	NCBI36
NG_011607.1:g.125884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2164C>T MANE Select	ENSP00000295408.4:p.Arg722Ter
ENST00000295408.8:c.2164C>T	ENSP00000295408.4:p.Arg722Ter
ENST00000409780.5:c.1636C>T	ENSP00000387277.1:p.Arg546Ter
ENST00000421804.6:c.2164C>T	ENSP00000389152.2:p.Arg722Ter
ENST00000439966.5:c.*1637C>T	ENSP00000402129.1:n.*1637C>T
ENST00000449344.2:c.85C>T	ENSP00000412660.2:p.Arg29Ter
ENST00000616902.4:c.1120C>T	ENSP00000482824.1:p.Arg374Ter
NM_006343.2:c.2164C>T	NP_006334.2:p.Arg722Ter
XM_005263565.3:c.2164C>T	XP_005263622.1:p.Arg722Ter
XM_005263568.3:c.2164C>T	XP_005263625.1:p.Arg722Ter
XM_011510490.1:c.1975C>T	XP_011508792.1:p.Arg659Ter
XM_011510491.1:c.949C>T	XP_011508793.1:p.Arg317Ter
XM_005263565.4:c.2164C>T	XP_005263622.1:p.Arg722Ter
XM_005263568.4:c.2164C>T	XP_005263625.1:p.Arg722Ter
XM_011510490.3:c.1975C>T	XP_011508792.1:p.Arg659Ter
XM_017003164.1:c.1975C>T	XP_016858653.1:p.Arg659Ter
XM_017003165.2:c.949C>T	XP_016858654.1:p.Arg317Ter
NM_006343.3:c.2164C>T MANE Select	NP_006334.2:p.Arg722Ter