Canonical Allele Identifier: CA428269803

Gene: MERTK

Linked Data

• dbSNP Id: rs1558782406
• gnomAD v2: 2-112704987-T-G
• MyVariant Identifiers: chr2:g.112704987T>G (hg19) ; chr2:g.112704987_112704988delinsGA (hg19) ; chr2:g.111947410_111947411delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947410T>G , CM000664.2:g.111947410T>G	GRCh38
NC_000002.11:g.112704987T>G , CM000664.1:g.112704987T>G	GRCh37
NC_000002.10:g.112421458T>G	NCBI36
NG_011607.1:g.53797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.600T>G MANE Select	ENSP00000295408.4:p.Thr200=
ENST00000295408.8:c.600T>G	ENSP00000295408.4:p.Thr200=
ENST00000409780.5:c.72T>G	ENSP00000387277.1:p.Thr24=
ENST00000421804.6:c.600T>G	ENSP00000389152.2:p.Thr200=
ENST00000439966.5:c.*73T>G	ENSP00000402129.1:n.*73T>G
ENST00000616902.4:c.-616T>G	ENSP00000482824.1:n.-616T>G
NM_006343.2:c.600T>G	NP_006334.2:p.Thr200=
XM_005263565.3:c.600T>G	XP_005263622.1:p.Thr200=
XM_005263568.3:c.600T>G	XP_005263625.1:p.Thr200=
XM_011510490.1:c.411T>G	XP_011508792.1:p.Thr137=
XM_005263565.4:c.600T>G	XP_005263622.1:p.Thr200=
XM_005263568.4:c.600T>G	XP_005263625.1:p.Thr200=
XM_011510490.3:c.411T>G	XP_011508792.1:p.Thr137=
XM_017003164.1:c.411T>G	XP_016858653.1:p.Thr137=
XM_017003165.2:c.-668T>G	XP_016858654.1:n.-668T>G
NM_006343.3:c.600T>G MANE Select	NP_006334.2:p.Thr200=