Canonical Allele Identifier: CA1831449

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1998750
• ClinVar RCV Id: RCV002814880
• dbSNP Id: rs755672432
• ExAC: 2:112754958 C / T
• gnomAD v2: 2-112754958-C-T
• gnomAD v4: 2-111997381-C-T
• MyVariant Identifiers: chr2:g.112754958C>T (hg19) ; chr2:g.111997381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997381C>T , CM000664.2:g.111997381C>T	GRCh38
NC_000002.11:g.112754958C>T , CM000664.1:g.112754958C>T	GRCh37
NC_000002.10:g.112471429C>T	NCBI36
NG_011607.1:g.103768C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1509C>T MANE Select	ENSP00000295408.4:p.Leu503=
ENST00000295408.8:c.1509C>T	ENSP00000295408.4:p.Leu503=
ENST00000409780.5:c.981C>T	ENSP00000387277.1:p.Leu327=
ENST00000421804.6:c.1509C>T	ENSP00000389152.2:p.Leu503=
ENST00000439966.5:c.*982C>T	ENSP00000402129.1:n.*982C>T
ENST00000473065.1:n.12C>T
ENST00000616902.4:c.478C>T	ENSP00000482824.1:p.His160Tyr
NM_006343.2:c.1509C>T	NP_006334.2:p.Leu503=
XM_005263565.3:c.1509C>T	XP_005263622.1:p.Leu503=
XM_005263568.3:c.1509C>T	XP_005263625.1:p.Leu503=
XM_011510490.1:c.1320C>T	XP_011508792.1:p.Leu440=
XM_011510491.1:c.294C>T	XP_011508793.1:p.Leu98=
XM_005263565.4:c.1509C>T	XP_005263622.1:p.Leu503=
XM_005263568.4:c.1509C>T	XP_005263625.1:p.Leu503=
XM_011510490.3:c.1320C>T	XP_011508792.1:p.Leu440=
XM_017003164.1:c.1320C>T	XP_016858653.1:p.Leu440=
XM_017003165.2:c.294C>T	XP_016858654.1:p.Leu98=
NM_006343.3:c.1509C>T MANE Select	NP_006334.2:p.Leu503=