Canonical Allele Identifier: CA348231622

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112755053G>A (hg19) ; chr2:g.111997476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997476G>A , CM000664.2:g.111997476G>A	GRCh38
NC_000002.11:g.112755053G>A , CM000664.1:g.112755053G>A	GRCh37
NC_000002.10:g.112471524G>A	NCBI36
NG_011607.1:g.103863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1604G>A MANE Select	ENSP00000295408.4:p.Gly535Glu
ENST00000295408.8:c.1604G>A	ENSP00000295408.4:p.Gly535Glu
ENST00000409780.5:c.1076G>A	ENSP00000387277.1:p.Gly359Glu
ENST00000421804.6:c.1604G>A	ENSP00000389152.2:p.Gly535Glu
ENST00000439966.5:c.*1077G>A	ENSP00000402129.1:n.*1077G>A
ENST00000473065.1:n.107G>A
ENST00000616902.4:c.569G>A	ENSP00000482824.1:p.Gly190Glu
NM_006343.2:c.1604G>A	NP_006334.2:p.Gly535Glu
XM_005263565.3:c.1604G>A	XP_005263622.1:p.Gly535Glu
XM_005263568.3:c.1604G>A	XP_005263625.1:p.Gly535Glu
XM_011510490.1:c.1415G>A	XP_011508792.1:p.Gly472Glu
XM_011510491.1:c.389G>A	XP_011508793.1:p.Gly130Glu
XM_005263565.4:c.1604G>A	XP_005263622.1:p.Gly535Glu
XM_005263568.4:c.1604G>A	XP_005263625.1:p.Gly535Glu
XM_011510490.3:c.1415G>A	XP_011508792.1:p.Gly472Glu
XM_017003164.1:c.1415G>A	XP_016858653.1:p.Gly472Glu
XM_017003165.2:c.389G>A	XP_016858654.1:p.Gly130Glu
NM_006343.3:c.1604G>A MANE Select	NP_006334.2:p.Gly535Glu