Canonical Allele Identifier: CA348233266

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112766012C>G (hg19) ; chr2:g.112008435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008435C>G , CM000664.2:g.112008435C>G	GRCh38
NC_000002.11:g.112766012C>G , CM000664.1:g.112766012C>G	GRCh37
NC_000002.10:g.112482483C>G	NCBI36
NG_011607.1:g.114822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1920C>G MANE Select	ENSP00000295408.4:p.Cys640Trp
ENST00000295408.8:c.1920C>G	ENSP00000295408.4:p.Cys640Trp
ENST00000409780.5:c.1392C>G	ENSP00000387277.1:p.Cys464Trp
ENST00000421804.6:c.1920C>G	ENSP00000389152.2:p.Cys640Trp
ENST00000439966.5:c.*1393C>G	ENSP00000402129.1:n.*1393C>G
ENST00000616902.4:c.885C>G	ENSP00000482824.1:p.Cys295Trp
NM_006343.2:c.1920C>G	NP_006334.2:p.Cys640Trp
XM_005263565.3:c.1920C>G	XP_005263622.1:p.Cys640Trp
XM_005263568.3:c.1920C>G	XP_005263625.1:p.Cys640Trp
XM_011510490.1:c.1731C>G	XP_011508792.1:p.Cys577Trp
XM_011510491.1:c.705C>G	XP_011508793.1:p.Cys235Trp
XM_005263565.4:c.1920C>G	XP_005263622.1:p.Cys640Trp
XM_005263568.4:c.1920C>G	XP_005263625.1:p.Cys640Trp
XM_011510490.3:c.1731C>G	XP_011508792.1:p.Cys577Trp
XM_017003164.1:c.1731C>G	XP_016858653.1:p.Cys577Trp
XM_017003165.2:c.705C>G	XP_016858654.1:p.Cys235Trp
NM_006343.3:c.1920C>G MANE Select	NP_006334.2:p.Cys640Trp