Canonical Allele Identifier: CA348229387

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705144G>T (hg19) ; chr2:g.111947567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947567G>T , CM000664.2:g.111947567G>T	GRCh38
NC_000002.11:g.112705144G>T , CM000664.1:g.112705144G>T	GRCh37
NC_000002.10:g.112421615G>T	NCBI36
NG_011607.1:g.53954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.757G>T MANE Select	ENSP00000295408.4:p.Gly253Cys
ENST00000295408.8:c.757G>T	ENSP00000295408.4:p.Gly253Cys
ENST00000409780.5:c.229G>T	ENSP00000387277.1:p.Gly77Cys
ENST00000421804.6:c.757G>T	ENSP00000389152.2:p.Gly253Cys
ENST00000439966.5:c.*230G>T	ENSP00000402129.1:n.*230G>T
ENST00000616902.4:c.-459G>T	ENSP00000482824.1:n.-459G>T
NM_006343.2:c.757G>T	NP_006334.2:p.Gly253Cys
XM_005263565.3:c.757G>T	XP_005263622.1:p.Gly253Cys
XM_005263568.3:c.757G>T	XP_005263625.1:p.Gly253Cys
XM_011510490.1:c.568G>T	XP_011508792.1:p.Gly190Cys
XM_005263565.4:c.757G>T	XP_005263622.1:p.Gly253Cys
XM_005263568.4:c.757G>T	XP_005263625.1:p.Gly253Cys
XM_011510490.3:c.568G>T	XP_011508792.1:p.Gly190Cys
XM_017003164.1:c.568G>T	XP_016858653.1:p.Gly190Cys
XM_017003165.2:c.-511G>T	XP_016858654.1:n.-511G>T
NM_006343.3:c.757G>T MANE Select	NP_006334.2:p.Gly253Cys