Canonical Allele Identifier: CA348229103

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705040G>T (hg19) ; chr2:g.111947463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947463G>T , CM000664.2:g.111947463G>T	GRCh38
NC_000002.11:g.112705040G>T , CM000664.1:g.112705040G>T	GRCh37
NC_000002.10:g.112421511G>T	NCBI36
NG_011607.1:g.53850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.653G>T MANE Select	ENSP00000295408.4:p.Cys218Phe
ENST00000295408.8:c.653G>T	ENSP00000295408.4:p.Cys218Phe
ENST00000409780.5:c.125G>T	ENSP00000387277.1:p.Cys42Phe
ENST00000421804.6:c.653G>T	ENSP00000389152.2:p.Cys218Phe
ENST00000439966.5:c.*126G>T	ENSP00000402129.1:n.*126G>T
ENST00000616902.4:c.-563G>T	ENSP00000482824.1:n.-563G>T
NM_006343.2:c.653G>T	NP_006334.2:p.Cys218Phe
XM_005263565.3:c.653G>T	XP_005263622.1:p.Cys218Phe
XM_005263568.3:c.653G>T	XP_005263625.1:p.Cys218Phe
XM_011510490.1:c.464G>T	XP_011508792.1:p.Cys155Phe
XM_005263565.4:c.653G>T	XP_005263622.1:p.Cys218Phe
XM_005263568.4:c.653G>T	XP_005263625.1:p.Cys218Phe
XM_011510490.3:c.464G>T	XP_011508792.1:p.Cys155Phe
XM_017003164.1:c.464G>T	XP_016858653.1:p.Cys155Phe
XM_017003165.2:c.-615G>T	XP_016858654.1:n.-615G>T
NM_006343.3:c.653G>T MANE Select	NP_006334.2:p.Cys218Phe