Canonical Allele Identifier: CA1831231

Gene: MERTK

Linked Data

• ClinVar Variation Id: 330750
• ClinVar RCV Id: RCV000352605 ; RCV000596593 ; RCV003950138
• dbSNP Id: rs373198570
• ExAC: 2:112725838 C / A
• gnomAD v2: 2-112725838-C-A
• gnomAD v3: 2-111968261-C-A
• gnomAD v4: 2-111968261-C-A
• MyVariant Identifiers: chr2:g.112725838C>A (hg19) ; chr2:g.111968261C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111968261C>A , CM000664.2:g.111968261C>A	GRCh38
NC_000002.11:g.112725838C>A , CM000664.1:g.112725838C>A	GRCh37
NC_000002.10:g.112442309C>A	NCBI36
NG_011607.1:g.74648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.960+9C>A MANE Select	ENSP00000295408.4:n.960+9C>A
ENST00000295408.8:c.960+9C>A	ENSP00000295408.4:n.960+9C>A
ENST00000409780.5:c.432+9C>A	ENSP00000387277.1:n.432+9C>A
ENST00000421804.6:c.960+9C>A	ENSP00000389152.2:n.960+9C>A
ENST00000439966.5:c.*433+9C>A	ENSP00000402129.1:n.*433+9C>A
ENST00000616902.4:c.-256+9C>A	ENSP00000482824.1:n.-256+9C>A
NM_006343.2:c.960+9C>A	NP_006334.2:n.960+9C>A
XM_005263565.3:c.960+9C>A	XP_005263622.1:n.960+9C>A
XM_005263568.3:c.960+9C>A	XP_005263625.1:n.960+9C>A
XM_011510490.1:c.771+9C>A	XP_011508792.1:n.771+9C>A
XM_005263565.4:c.960+9C>A	XP_005263622.1:n.960+9C>A
XM_005263568.4:c.960+9C>A	XP_005263625.1:n.960+9C>A
XM_011510490.3:c.771+9C>A	XP_011508792.1:n.771+9C>A
XM_017003164.1:c.771+9C>A	XP_016858653.1:n.771+9C>A
XM_017003165.2:c.-308+9C>A	XP_016858654.1:n.-308+9C>A
NM_006343.3:c.960+9C>A MANE Select	NP_006334.2:n.960+9C>A