Canonical Allele Identifier: CA1831129

Gene: MERTK

Linked Data

• ClinVar Variation Id: 892711
• ClinVar RCV Id: RCV001129153 ; RCV001211760
• dbSNP Id: rs199707021
• ExAC: 2:112705097 G / A
• gnomAD v2: 2-112705097-G-A
• gnomAD v3: 2-111947520-G-A
• gnomAD v4: 2-111947520-G-A
• MyVariant Identifiers: chr2:g.112705097G>A (hg19) ; chr2:g.111947520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947520G>A , CM000664.2:g.111947520G>A	GRCh38
NC_000002.11:g.112705097G>A , CM000664.1:g.112705097G>A	GRCh37
NC_000002.10:g.112421568G>A	NCBI36
NG_011607.1:g.53907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.710G>A MANE Select	ENSP00000295408.4:p.Arg237His
ENST00000295408.8:c.710G>A	ENSP00000295408.4:p.Arg237His
ENST00000409780.5:c.182G>A	ENSP00000387277.1:p.Arg61His
ENST00000421804.6:c.710G>A	ENSP00000389152.2:p.Arg237His
ENST00000439966.5:c.*183G>A	ENSP00000402129.1:n.*183G>A
ENST00000616902.4:c.-506G>A	ENSP00000482824.1:n.-506G>A
NM_006343.2:c.710G>A	NP_006334.2:p.Arg237His
XM_005263565.3:c.710G>A	XP_005263622.1:p.Arg237His
XM_005263568.3:c.710G>A	XP_005263625.1:p.Arg237His
XM_011510490.1:c.521G>A	XP_011508792.1:p.Arg174His
XM_005263565.4:c.710G>A	XP_005263622.1:p.Arg237His
XM_005263568.4:c.710G>A	XP_005263625.1:p.Arg237His
XM_011510490.3:c.521G>A	XP_011508792.1:p.Arg174His
XM_017003164.1:c.521G>A	XP_016858653.1:p.Arg174His
XM_017003165.2:c.-558G>A	XP_016858654.1:n.-558G>A
NM_006343.3:c.710G>A MANE Select	NP_006334.2:p.Arg237His