Canonical Allele Identifier: CA428275250
Gene: MERTK HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.112766048T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112008471T>A , CM000664.2:g.112008471T>A GRCh38
NC_000002.11:g.112766048T>A , CM000664.1:g.112766048T>A GRCh37
NC_000002.10:g.112482519T>A NCBI36
NG_011607.1:g.114858T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.1956T>A MANE Select ENSP00000295408.4:p.Leu652=
ENST00000295408.8:c.1956T>A ENSP00000295408.4:p.Leu652=
ENST00000409780.5:c.1428T>A ENSP00000387277.1:p.Leu476=
ENST00000421804.6:c.1956T>A ENSP00000389152.2:p.Leu652=
ENST00000439966.5:c.*1429T>A ENSP00000402129.1:n.*1429T>A
ENST00000616902.4:c.921T>A ENSP00000482824.1:p.Leu307=
NM_006343.2:c.1956T>A NP_006334.2:p.Leu652=
XM_005263565.3:c.1956T>A XP_005263622.1:p.Leu652=
XM_005263568.3:c.1956T>A XP_005263625.1:p.Leu652=
XM_011510490.1:c.1767T>A XP_011508792.1:p.Leu589=
XM_011510491.1:c.741T>A XP_011508793.1:p.Leu247=
XM_005263565.4:c.1956T>A XP_005263622.1:p.Leu652=
XM_005263568.4:c.1956T>A XP_005263625.1:p.Leu652=
XM_011510490.3:c.1767T>A XP_011508792.1:p.Leu589=
XM_017003164.1:c.1767T>A XP_016858653.1:p.Leu589=
XM_017003165.2:c.741T>A XP_016858654.1:p.Leu247=
NM_006343.3:c.1956T>A MANE Select NP_006334.2:p.Leu652=