Canonical Allele Identifier: CA348231305

Gene: MERTK

Linked Data

• dbSNP Id: rs1676770170
• gnomAD v4: 2-111997387-C-A
• MyVariant Identifiers: chr2:g.112754964C>A (hg19) ; chr2:g.111997387C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997387C>A , CM000664.2:g.111997387C>A	GRCh38
NC_000002.11:g.112754964C>A , CM000664.1:g.112754964C>A	GRCh37
NC_000002.10:g.112471435C>A	NCBI36
NG_011607.1:g.103774C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1515C>A MANE Select	ENSP00000295408.4:p.Ile505=
ENST00000295408.8:c.1515C>A	ENSP00000295408.4:p.Ile505=
ENST00000409780.5:c.987C>A	ENSP00000387277.1:p.Ile329=
ENST00000421804.6:c.1515C>A	ENSP00000389152.2:p.Ile505=
ENST00000439966.5:c.*988C>A	ENSP00000402129.1:n.*988C>A
ENST00000473065.1:n.18C>A
ENST00000616902.4:c.484C>A	ENSP00000482824.1:p.Leu162Ile
NM_006343.2:c.1515C>A	NP_006334.2:p.Ile505=
XM_005263565.3:c.1515C>A	XP_005263622.1:p.Ile505=
XM_005263568.3:c.1515C>A	XP_005263625.1:p.Ile505=
XM_011510490.1:c.1326C>A	XP_011508792.1:p.Ile442=
XM_011510491.1:c.300C>A	XP_011508793.1:p.Ile100=
XM_005263565.4:c.1515C>A	XP_005263622.1:p.Ile505=
XM_005263568.4:c.1515C>A	XP_005263625.1:p.Ile505=
XM_011510490.3:c.1326C>A	XP_011508792.1:p.Ile442=
XM_017003164.1:c.1326C>A	XP_016858653.1:p.Ile442=
XM_017003165.2:c.300C>A	XP_016858654.1:p.Ile100=
NM_006343.3:c.1515C>A MANE Select	NP_006334.2:p.Ile505=