Canonical Allele Identifier: CA1831136

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1522058
• ClinVar RCV Id: RCV002034238
• dbSNP Id: rs775696574
• ExAC: 2:112705134 A / G
• gnomAD v2: 2-112705134-A-G
• gnomAD v4: 2-111947557-A-G
• MyVariant Identifiers: chr2:g.112705134A>G (hg19) ; chr2:g.111947557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947557A>G , CM000664.2:g.111947557A>G	GRCh38
NC_000002.11:g.112705134A>G , CM000664.1:g.112705134A>G	GRCh37
NC_000002.10:g.112421605A>G	NCBI36
NG_011607.1:g.53944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.747A>G MANE Select	ENSP00000295408.4:p.Leu249=
ENST00000295408.8:c.747A>G	ENSP00000295408.4:p.Leu249=
ENST00000409780.5:c.219A>G	ENSP00000387277.1:p.Leu73=
ENST00000421804.6:c.747A>G	ENSP00000389152.2:p.Leu249=
ENST00000439966.5:c.*220A>G	ENSP00000402129.1:n.*220A>G
ENST00000616902.4:c.-469A>G	ENSP00000482824.1:n.-469A>G
NM_006343.2:c.747A>G	NP_006334.2:p.Leu249=
XM_005263565.3:c.747A>G	XP_005263622.1:p.Leu249=
XM_005263568.3:c.747A>G	XP_005263625.1:p.Leu249=
XM_011510490.1:c.558A>G	XP_011508792.1:p.Leu186=
XM_005263565.4:c.747A>G	XP_005263622.1:p.Leu249=
XM_005263568.4:c.747A>G	XP_005263625.1:p.Leu249=
XM_011510490.3:c.558A>G	XP_011508792.1:p.Leu186=
XM_017003164.1:c.558A>G	XP_016858653.1:p.Leu186=
XM_017003165.2:c.-521A>G	XP_016858654.1:n.-521A>G
NM_006343.3:c.747A>G MANE Select	NP_006334.2:p.Leu249=