Canonical Allele Identifier: CA658795841

Gene: MERTK

Linked Data

• ClinVar Variation Id: 520426
• ClinVar RCV Id: RCV000622651
• dbSNP Id: rs1553454799
• gnomAD v4: 2-111982998-G-A
• MyVariant Identifiers: chr2:g.112740575G>A (hg19) ; chr2:g.111982998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111982998G>A , CM000664.2:g.111982998G>A	GRCh38
NC_000002.11:g.112740575G>A , CM000664.1:g.112740575G>A	GRCh37
NC_000002.10:g.112457046G>A	NCBI36
NG_011607.1:g.89385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1296+5G>A MANE Select	ENSP00000295408.4:n.1296+5G>A
ENST00000295408.8:c.1296+5G>A	ENSP00000295408.4:n.1296+5G>A
ENST00000409780.5:c.768+5G>A	ENSP00000387277.1:n.768+5G>A
ENST00000421804.6:c.1296+5G>A	ENSP00000389152.2:n.1296+5G>A
ENST00000439966.5:c.*769+5G>A	ENSP00000402129.1:n.*769+5G>A
ENST00000616902.4:c.81+5G>A	ENSP00000482824.1:n.81+5G>A
NM_006343.2:c.1296+5G>A	NP_006334.2:n.1296+5G>A
XM_005263565.3:c.1296+5G>A	XP_005263622.1:n.1296+5G>A
XM_005263568.3:c.1296+5G>A	XP_005263625.1:n.1296+5G>A
XM_011510490.1:c.1107+5G>A	XP_011508792.1:n.1107+5G>A
XM_011510491.1:c.81+5G>A	XP_011508793.1:n.81+5G>A
XM_005263565.4:c.1296+5G>A	XP_005263622.1:n.1296+5G>A
XM_005263568.4:c.1296+5G>A	XP_005263625.1:n.1296+5G>A
XM_011510490.3:c.1107+5G>A	XP_011508792.1:n.1107+5G>A
XM_017003164.1:c.1107+5G>A	XP_016858653.1:n.1107+5G>A
XM_017003165.2:c.81+5G>A	XP_016858654.1:n.81+5G>A
NM_006343.3:c.1296+5G>A MANE Select	NP_006334.2:n.1296+5G>A