Canonical Allele Identifier: CA348229025

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705005G>T (hg19) ; chr2:g.111947428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947428G>T , CM000664.2:g.111947428G>T	GRCh38
NC_000002.11:g.112705005G>T , CM000664.1:g.112705005G>T	GRCh37
NC_000002.10:g.112421476G>T	NCBI36
NG_011607.1:g.53815G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.618G>T MANE Select	ENSP00000295408.4:p.Met206Ile
ENST00000295408.8:c.618G>T	ENSP00000295408.4:p.Met206Ile
ENST00000409780.5:c.90G>T	ENSP00000387277.1:p.Met30Ile
ENST00000421804.6:c.618G>T	ENSP00000389152.2:p.Met206Ile
ENST00000439966.5:c.*91G>T	ENSP00000402129.1:n.*91G>T
ENST00000616902.4:c.-598G>T	ENSP00000482824.1:n.-598G>T
NM_006343.2:c.618G>T	NP_006334.2:p.Met206Ile
XM_005263565.3:c.618G>T	XP_005263622.1:p.Met206Ile
XM_005263568.3:c.618G>T	XP_005263625.1:p.Met206Ile
XM_011510490.1:c.429G>T	XP_011508792.1:p.Met143Ile
XM_005263565.4:c.618G>T	XP_005263622.1:p.Met206Ile
XM_005263568.4:c.618G>T	XP_005263625.1:p.Met206Ile
XM_011510490.3:c.429G>T	XP_011508792.1:p.Met143Ile
XM_017003164.1:c.429G>T	XP_016858653.1:p.Met143Ile
XM_017003165.2:c.-650G>T	XP_016858654.1:n.-650G>T
NM_006343.3:c.618G>T MANE Select	NP_006334.2:p.Met206Ile