Canonical Allele Identifier: CA1831460

Gene: MERTK

Linked Data

• dbSNP Id: rs762042104
• ExAC: 2:112755014 C / T
• gnomAD v2: 2-112755014-C-T
• gnomAD v3: 2-111997437-C-T
• gnomAD v4: 2-111997437-C-T
• COSMIC: COSM5923597 ; COSM5923598
• MyVariant Identifiers: chr2:g.112755014C>T (hg19) ; chr2:g.111997437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997437C>T , CM000664.2:g.111997437C>T	GRCh38
NC_000002.11:g.112755014C>T , CM000664.1:g.112755014C>T	GRCh37
NC_000002.10:g.112471485C>T	NCBI36
NG_011607.1:g.103824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1565C>T MANE Select	ENSP00000295408.4:p.Ser522Phe
ENST00000295408.8:c.1565C>T	ENSP00000295408.4:p.Ser522Phe
ENST00000409780.5:c.1037C>T	ENSP00000387277.1:p.Ser346Phe
ENST00000421804.6:c.1565C>T	ENSP00000389152.2:p.Ser522Phe
ENST00000439966.5:c.*1038C>T	ENSP00000402129.1:n.*1038C>T
ENST00000473065.1:n.68C>T
ENST00000616902.4:c.530C>T	ENSP00000482824.1:p.Ser177Phe
NM_006343.2:c.1565C>T	NP_006334.2:p.Ser522Phe
XM_005263565.3:c.1565C>T	XP_005263622.1:p.Ser522Phe
XM_005263568.3:c.1565C>T	XP_005263625.1:p.Ser522Phe
XM_011510490.1:c.1376C>T	XP_011508792.1:p.Ser459Phe
XM_011510491.1:c.350C>T	XP_011508793.1:p.Ser117Phe
XM_005263565.4:c.1565C>T	XP_005263622.1:p.Ser522Phe
XM_005263568.4:c.1565C>T	XP_005263625.1:p.Ser522Phe
XM_011510490.3:c.1376C>T	XP_011508792.1:p.Ser459Phe
XM_017003164.1:c.1376C>T	XP_016858653.1:p.Ser459Phe
XM_017003165.2:c.350C>T	XP_016858654.1:p.Ser117Phe
NM_006343.3:c.1565C>T MANE Select	NP_006334.2:p.Ser522Phe