Canonical Allele Identifier: CA1831830

Gene: MERTK

Linked Data

• ClinVar Variation Id: 403082
• ClinVar RCV Id: RCV000454548 ; RCV000727047 ; RCV001331567
• dbSNP Id: rs141361084
• ExAC: 2:112779920 A / C
• gnomAD v2: 2-112779920-A-C
• gnomAD v3: 2-112022343-A-C
• gnomAD v4: 2-112022343-A-C
• MyVariant Identifiers: chr2:g.112779920A>C (hg19) ; chr2:g.112022343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112022343A>C , CM000664.2:g.112022343A>C	GRCh38
NC_000002.11:g.112779920A>C , CM000664.1:g.112779920A>C	GRCh37
NC_000002.10:g.112496391A>C	NCBI36
NG_011607.1:g.128730A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2435A>C MANE Select	ENSP00000295408.4:p.Tyr812Ser
ENST00000295408.8:c.2435A>C	ENSP00000295408.4:p.Tyr812Ser
ENST00000409780.5:c.1907A>C	ENSP00000387277.1:p.Tyr636Ser
ENST00000421804.6:c.2435A>C	ENSP00000389152.2:p.Tyr812Ser
ENST00000439966.5:c.*1908A>C	ENSP00000402129.1:n.*1908A>C
ENST00000449344.2:c.407A>C	ENSP00000412660.2:p.Tyr136Ser
ENST00000616902.4:c.1391A>C	ENSP00000482824.1:p.Tyr464Ser
NM_006343.2:c.2435A>C	NP_006334.2:p.Tyr812Ser
XM_005263565.3:c.2435A>C	XP_005263622.1:p.Tyr812Ser
XM_011510490.1:c.2246A>C	XP_011508792.1:p.Tyr749Ser
XM_011510491.1:c.1220A>C	XP_011508793.1:p.Tyr407Ser
XM_005263565.4:c.2435A>C	XP_005263622.1:p.Tyr812Ser
XM_011510490.3:c.2246A>C	XP_011508792.1:p.Tyr749Ser
XM_017003164.1:c.2246A>C	XP_016858653.1:p.Tyr749Ser
XM_017003165.2:c.1220A>C	XP_016858654.1:p.Tyr407Ser
NM_006343.3:c.2435A>C MANE Select	NP_006334.2:p.Tyr812Ser