Canonical Allele Identifier: CA180187

Gene: MERTK

Linked Data

• ClinVar Variation Id: 100581
• ClinVar RCV Id: RCV000086963 ; RCV000153488 ; RCV000292622 ; RCV001775582 ; RCV003888501
• dbSNP Id: rs2230517
• ExAC: 2:112786049 G / A
• gnomAD v2: 2-112786049-G-A
• gnomAD v3: 2-112028472-G-A
• gnomAD v4: 2-112028472-G-A
• MyVariant Identifiers: chr2:g.112786049G>A (hg19) ; chr2:g.112028472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112028472G>A , CM000664.2:g.112028472G>A	GRCh38
NC_000002.11:g.112786049G>A , CM000664.1:g.112786049G>A	GRCh37
NC_000002.10:g.112502520G>A	NCBI36
NG_011607.1:g.134859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2608G>A MANE Select	ENSP00000295408.4:p.Val870Ile
ENST00000295408.8:c.2608G>A	ENSP00000295408.4:p.Val870Ile
ENST00000409780.5:c.2080G>A	ENSP00000387277.1:p.Val694Ile
ENST00000421804.6:c.2608G>A	ENSP00000389152.2:p.Val870Ile
ENST00000439966.5:c.*2081G>A	ENSP00000402129.1:n.*2081G>A
ENST00000449344.2:c.580G>A	ENSP00000412660.2:p.Val194Ile
ENST00000616902.4:c.1681G>A	ENSP00000482824.1:p.Val561Ile
NM_006343.2:c.2608G>A	NP_006334.2:p.Val870Ile
XM_005263565.3:c.2486+6078G>A	XP_005263622.1:n.2486+6078G>A
XM_011510490.1:c.2419G>A	XP_011508792.1:p.Val807Ile
XM_011510491.1:c.1393G>A	XP_011508793.1:p.Val465Ile
XM_005263565.4:c.2486+6078G>A	XP_005263622.1:n.2486+6078G>A
XM_011510490.3:c.2419G>A	XP_011508792.1:p.Val807Ile
XM_017003164.1:c.2419G>A	XP_016858653.1:p.Val807Ile
XM_017003165.2:c.1393G>A	XP_016858654.1:p.Val465Ile
NM_006343.3:c.2608G>A MANE Select	NP_006334.2:p.Val870Ile