Canonical Allele Identifier: CA1831115

Gene: MERTK

Linked Data

• dbSNP Id: rs775853257
• ExAC: 2:112705033 C / G
• gnomAD v2: 2-112705033-C-G
• gnomAD v4: 2-111947456-C-G
• MyVariant Identifiers: chr2:g.112705033C>G (hg19) ; chr2:g.111947456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947456C>G , CM000664.2:g.111947456C>G	GRCh38
NC_000002.11:g.112705033C>G , CM000664.1:g.112705033C>G	GRCh37
NC_000002.10:g.112421504C>G	NCBI36
NG_011607.1:g.53843C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.646C>G MANE Select	ENSP00000295408.4:p.Leu216Val
ENST00000295408.8:c.646C>G	ENSP00000295408.4:p.Leu216Val
ENST00000409780.5:c.118C>G	ENSP00000387277.1:p.Leu40Val
ENST00000421804.6:c.646C>G	ENSP00000389152.2:p.Leu216Val
ENST00000439966.5:c.*119C>G	ENSP00000402129.1:n.*119C>G
ENST00000616902.4:c.-570C>G	ENSP00000482824.1:n.-570C>G
NM_006343.2:c.646C>G	NP_006334.2:p.Leu216Val
XM_005263565.3:c.646C>G	XP_005263622.1:p.Leu216Val
XM_005263568.3:c.646C>G	XP_005263625.1:p.Leu216Val
XM_011510490.1:c.457C>G	XP_011508792.1:p.Leu153Val
XM_005263565.4:c.646C>G	XP_005263622.1:p.Leu216Val
XM_005263568.4:c.646C>G	XP_005263625.1:p.Leu216Val
XM_011510490.3:c.457C>G	XP_011508792.1:p.Leu153Val
XM_017003164.1:c.457C>G	XP_016858653.1:p.Leu153Val
XM_017003165.2:c.-622C>G	XP_016858654.1:n.-622C>G
NM_006343.3:c.646C>G MANE Select	NP_006334.2:p.Leu216Val