Canonical Allele Identifier: CA1831120

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2079623
• ClinVar RCV Id: RCV002982905
• dbSNP Id: rs765685308
• ExAC: 2:112705055 C / T
• gnomAD v2: 2-112705055-C-T
• gnomAD v3: 2-111947478-C-T
• gnomAD v4: 2-111947478-C-T
• MyVariant Identifiers: chr2:g.112705055C>T (hg19) ; chr2:g.111947478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947478C>T , CM000664.2:g.111947478C>T	GRCh38
NC_000002.11:g.112705055C>T , CM000664.1:g.112705055C>T	GRCh37
NC_000002.10:g.112421526C>T	NCBI36
NG_011607.1:g.53865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.668C>T MANE Select	ENSP00000295408.4:p.Pro223Leu
ENST00000295408.8:c.668C>T	ENSP00000295408.4:p.Pro223Leu
ENST00000409780.5:c.140C>T	ENSP00000387277.1:p.Pro47Leu
ENST00000421804.6:c.668C>T	ENSP00000389152.2:p.Pro223Leu
ENST00000439966.5:c.*141C>T	ENSP00000402129.1:n.*141C>T
ENST00000616902.4:c.-548C>T	ENSP00000482824.1:n.-548C>T
NM_006343.2:c.668C>T	NP_006334.2:p.Pro223Leu
XM_005263565.3:c.668C>T	XP_005263622.1:p.Pro223Leu
XM_005263568.3:c.668C>T	XP_005263625.1:p.Pro223Leu
XM_011510490.1:c.479C>T	XP_011508792.1:p.Pro160Leu
XM_005263565.4:c.668C>T	XP_005263622.1:p.Pro223Leu
XM_005263568.4:c.668C>T	XP_005263625.1:p.Pro223Leu
XM_011510490.3:c.479C>T	XP_011508792.1:p.Pro160Leu
XM_017003164.1:c.479C>T	XP_016858653.1:p.Pro160Leu
XM_017003165.2:c.-600C>T	XP_016858654.1:n.-600C>T
NM_006343.3:c.668C>T MANE Select	NP_006334.2:p.Pro223Leu