Canonical Allele Identifier: CA428269755
Gene: MERTK HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.112704975T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111947398T>G , CM000664.2:g.111947398T>G GRCh38
NC_000002.11:g.112704975T>G , CM000664.1:g.112704975T>G GRCh37
NC_000002.10:g.112421446T>G NCBI36
NG_011607.1:g.53785T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.588T>G MANE Select ENSP00000295408.4:p.Leu196=
ENST00000295408.8:c.588T>G ENSP00000295408.4:p.Leu196=
ENST00000409780.5:c.60T>G ENSP00000387277.1:p.Leu20=
ENST00000421804.6:c.588T>G ENSP00000389152.2:p.Leu196=
ENST00000439966.5:c.*61T>G ENSP00000402129.1:n.*61T>G
ENST00000616902.4:c.-628T>G ENSP00000482824.1:n.-628T>G
NM_006343.2:c.588T>G NP_006334.2:p.Leu196=
XM_005263565.3:c.588T>G XP_005263622.1:p.Leu196=
XM_005263568.3:c.588T>G XP_005263625.1:p.Leu196=
XM_011510490.1:c.399T>G XP_011508792.1:p.Leu133=
XM_005263565.4:c.588T>G XP_005263622.1:p.Leu196=
XM_005263568.4:c.588T>G XP_005263625.1:p.Leu196=
XM_011510490.3:c.399T>G XP_011508792.1:p.Leu133=
XM_017003164.1:c.399T>G XP_016858653.1:p.Leu133=
XM_017003165.2:c.-680T>G XP_016858654.1:n.-680T>G
NM_006343.3:c.588T>G MANE Select NP_006334.2:p.Leu196=