Canonical Allele Identifier: CA428270137
Gene: MERTK HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.112705035C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111947458C>T , CM000664.2:g.111947458C>T GRCh38
NC_000002.11:g.112705035C>T , CM000664.1:g.112705035C>T GRCh37
NC_000002.10:g.112421506C>T NCBI36
NG_011607.1:g.53845C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.648C>T MANE Select ENSP00000295408.4:p.Leu216=
ENST00000295408.8:c.648C>T ENSP00000295408.4:p.Leu216=
ENST00000409780.5:c.120C>T ENSP00000387277.1:p.Leu40=
ENST00000421804.6:c.648C>T ENSP00000389152.2:p.Leu216=
ENST00000439966.5:c.*121C>T ENSP00000402129.1:n.*121C>T
ENST00000616902.4:c.-568C>T ENSP00000482824.1:n.-568C>T
NM_006343.2:c.648C>T NP_006334.2:p.Leu216=
XM_005263565.3:c.648C>T XP_005263622.1:p.Leu216=
XM_005263568.3:c.648C>T XP_005263625.1:p.Leu216=
XM_011510490.1:c.459C>T XP_011508792.1:p.Leu153=
XM_005263565.4:c.648C>T XP_005263622.1:p.Leu216=
XM_005263568.4:c.648C>T XP_005263625.1:p.Leu216=
XM_011510490.3:c.459C>T XP_011508792.1:p.Leu153=
XM_017003164.1:c.459C>T XP_016858653.1:p.Leu153=
XM_017003165.2:c.-620C>T XP_016858654.1:n.-620C>T
NM_006343.3:c.648C>T MANE Select NP_006334.2:p.Leu216=