Canonical Allele Identifier: CA428275254

Gene: MERTK

Linked Data

• gnomAD v4: 2-112008474-A-G
• MyVariant Identifiers: chr2:g.112766051A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008474A>G , CM000664.2:g.112008474A>G	GRCh38
NC_000002.11:g.112766051A>G , CM000664.1:g.112766051A>G	GRCh37
NC_000002.10:g.112482522A>G	NCBI36
NG_011607.1:g.114861A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1959A>G MANE Select	ENSP00000295408.4:p.Leu653=
ENST00000295408.8:c.1959A>G	ENSP00000295408.4:p.Leu653=
ENST00000409780.5:c.1431A>G	ENSP00000387277.1:p.Leu477=
ENST00000421804.6:c.1959A>G	ENSP00000389152.2:p.Leu653=
ENST00000439966.5:c.*1432A>G	ENSP00000402129.1:n.*1432A>G
ENST00000616902.4:c.924A>G	ENSP00000482824.1:p.Leu308=
NM_006343.2:c.1959A>G	NP_006334.2:p.Leu653=
XM_005263565.3:c.1959A>G	XP_005263622.1:p.Leu653=
XM_005263568.3:c.1959A>G	XP_005263625.1:p.Leu653=
XM_011510490.1:c.1770A>G	XP_011508792.1:p.Leu590=
XM_011510491.1:c.744A>G	XP_011508793.1:p.Leu248=
XM_005263565.4:c.1959A>G	XP_005263622.1:p.Leu653=
XM_005263568.4:c.1959A>G	XP_005263625.1:p.Leu653=
XM_011510490.3:c.1770A>G	XP_011508792.1:p.Leu590=
XM_017003164.1:c.1770A>G	XP_016858653.1:p.Leu590=
XM_017003165.2:c.744A>G	XP_016858654.1:p.Leu248=
NM_006343.3:c.1959A>G MANE Select	NP_006334.2:p.Leu653=