Canonical Allele Identifier: CA278959

Gene: MERTK

Linked Data

• ClinVar Variation Id: 216961
• ClinVar RCV Id: RCV000197519
• dbSNP Id: rs863224894
• MyVariant Identifiers: chr2:g.112779001T>C (hg19) ; chr2:g.112021424T>C (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112021424T>C , CM000664.2:g.112021424T>C	GRCh38
NC_000002.11:g.112779001T>C , CM000664.1:g.112779001T>C	GRCh37
NC_000002.10:g.112495472T>C	NCBI36
NG_011607.1:g.127811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2192T>C MANE Select	ENSP00000295408.4:p.Leu731Ser
ENST00000295408.8:c.2192T>C	ENSP00000295408.4:p.Leu731Ser
ENST00000409780.5:c.1664T>C	ENSP00000387277.1:p.Leu555Ser
ENST00000421804.6:c.2192T>C	ENSP00000389152.2:p.Leu731Ser
ENST00000439966.5:c.*1665T>C	ENSP00000402129.1:n.*1665T>C
ENST00000449344.2:c.164T>C	ENSP00000412660.2:p.Leu55Ser
ENST00000616902.4:c.1148T>C	ENSP00000482824.1:p.Leu383Ser
NM_006343.2:c.2192T>C	NP_006334.2:p.Leu731Ser
XM_005263565.3:c.2192T>C	XP_005263622.1:p.Leu731Ser
XM_005263568.3:c.*48T>C	XP_005263625.1:n.*48T>C
XM_011510490.1:c.2003T>C	XP_011508792.1:p.Leu668Ser
XM_011510491.1:c.977T>C	XP_011508793.1:p.Leu326Ser
XM_005263565.4:c.2192T>C	XP_005263622.1:p.Leu731Ser
XM_011510490.3:c.2003T>C	XP_011508792.1:p.Leu668Ser
XM_017003164.1:c.2003T>C	XP_016858653.1:p.Leu668Ser
XM_017003165.2:c.977T>C	XP_016858654.1:p.Leu326Ser
NM_006343.3:c.2192T>C MANE Select	NP_006334.2:p.Leu731Ser