Canonical Allele Identifier: CA348231248

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112754951C>G (hg19) ; chr2:g.111997374C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997374C>G , CM000664.2:g.111997374C>G	GRCh38
NC_000002.11:g.112754951C>G , CM000664.1:g.112754951C>G	GRCh37
NC_000002.10:g.112471422C>G	NCBI36
NG_011607.1:g.103761C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1502C>G MANE Select	ENSP00000295408.4:p.Pro501Arg
ENST00000295408.8:c.1502C>G	ENSP00000295408.4:p.Pro501Arg
ENST00000409780.5:c.974C>G	ENSP00000387277.1:p.Pro325Arg
ENST00000421804.6:c.1502C>G	ENSP00000389152.2:p.Pro501Arg
ENST00000439966.5:c.*975C>G	ENSP00000402129.1:n.*975C>G
ENST00000473065.1:n.5C>G
ENST00000616902.4:c.471C>G	ENSP00000482824.1:p.Ser157=
NM_006343.2:c.1502C>G	NP_006334.2:p.Pro501Arg
XM_005263565.3:c.1502C>G	XP_005263622.1:p.Pro501Arg
XM_005263568.3:c.1502C>G	XP_005263625.1:p.Pro501Arg
XM_011510490.1:c.1313C>G	XP_011508792.1:p.Pro438Arg
XM_011510491.1:c.287C>G	XP_011508793.1:p.Pro96Arg
XM_005263565.4:c.1502C>G	XP_005263622.1:p.Pro501Arg
XM_005263568.4:c.1502C>G	XP_005263625.1:p.Pro501Arg
XM_011510490.3:c.1313C>G	XP_011508792.1:p.Pro438Arg
XM_017003164.1:c.1313C>G	XP_016858653.1:p.Pro438Arg
XM_017003165.2:c.287C>G	XP_016858654.1:p.Pro96Arg
NM_006343.3:c.1502C>G MANE Select	NP_006334.2:p.Pro501Arg