Canonical Allele Identifier: CA10581654

Gene: MERTK

Linked Data

• ClinVar Variation Id: 236454
• ClinVar RCV Id: RCV000225669 ; RCV000505072 ; RCV001383851
• dbSNP Id: rs878853354
• gnomAD v3: 2-112019513-G-A
• gnomAD v4: 2-112019513-G-A
• COSMIC: COSM3971513
• MyVariant Identifiers: chr2:g.112777090G>A (hg19) ; chr2:g.112019513G>A (hg38)
• PubMed: PMID:24625443 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112019513G>A , CM000664.2:g.112019513G>A	GRCh38
NC_000002.11:g.112777090G>A , CM000664.1:g.112777090G>A	GRCh37
NC_000002.10:g.112493561G>A	NCBI36
NG_011607.1:g.125900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2180G>A MANE Select	ENSP00000295408.4:p.Arg727Gln
ENST00000295408.8:c.2180G>A	ENSP00000295408.4:p.Arg727Gln
ENST00000409780.5:c.1652G>A	ENSP00000387277.1:p.Arg551Gln
ENST00000421804.6:c.2180G>A	ENSP00000389152.2:p.Arg727Gln
ENST00000439966.5:c.*1653G>A	ENSP00000402129.1:n.*1653G>A
ENST00000449344.2:c.101G>A	ENSP00000412660.2:p.Arg34Gln
ENST00000616902.4:c.1136G>A	ENSP00000482824.1:p.Arg379Gln
NM_006343.2:c.2180G>A	NP_006334.2:p.Arg727Gln
XM_005263565.3:c.2180G>A	XP_005263622.1:p.Arg727Gln
XM_005263568.3:c.2180G>A	XP_005263625.1:p.Arg727Gln
XM_011510490.1:c.1991G>A	XP_011508792.1:p.Arg664Gln
XM_011510491.1:c.965G>A	XP_011508793.1:p.Arg322Gln
XM_005263565.4:c.2180G>A	XP_005263622.1:p.Arg727Gln
XM_005263568.4:c.2180G>A	XP_005263625.1:p.Arg727Gln
XM_011510490.3:c.1991G>A	XP_011508792.1:p.Arg664Gln
XM_017003164.1:c.1991G>A	XP_016858653.1:p.Arg664Gln
XM_017003165.2:c.965G>A	XP_016858654.1:p.Arg322Gln
NM_006343.3:c.2180G>A MANE Select	NP_006334.2:p.Arg727Gln