Canonical Allele Identifier: CA428270343
Gene: MERTK HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.112705068C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111947491C>A , CM000664.2:g.111947491C>A GRCh38
NC_000002.11:g.112705068C>A , CM000664.1:g.112705068C>A GRCh37
NC_000002.10:g.112421539C>A NCBI36
NG_011607.1:g.53878C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.681C>A MANE Select ENSP00000295408.4:p.Val227=
ENST00000295408.8:c.681C>A ENSP00000295408.4:p.Val227=
ENST00000409780.5:c.153C>A ENSP00000387277.1:p.Val51=
ENST00000421804.6:c.681C>A ENSP00000389152.2:p.Val227=
ENST00000439966.5:c.*154C>A ENSP00000402129.1:n.*154C>A
ENST00000616902.4:c.-535C>A ENSP00000482824.1:n.-535C>A
NM_006343.2:c.681C>A NP_006334.2:p.Val227=
XM_005263565.3:c.681C>A XP_005263622.1:p.Val227=
XM_005263568.3:c.681C>A XP_005263625.1:p.Val227=
XM_011510490.1:c.492C>A XP_011508792.1:p.Val164=
XM_005263565.4:c.681C>A XP_005263622.1:p.Val227=
XM_005263568.4:c.681C>A XP_005263625.1:p.Val227=
XM_011510490.3:c.492C>A XP_011508792.1:p.Val164=
XM_017003164.1:c.492C>A XP_016858653.1:p.Val164=
XM_017003165.2:c.-587C>A XP_016858654.1:n.-587C>A
NM_006343.3:c.681C>A MANE Select NP_006334.2:p.Val227=