Canonical Allele Identifier: CA348228992

Gene: MERTK

Linked Data

• ClinVar Variation Id: 865846
• ClinVar RCV Id: RCV001073379
• dbSNP Id: rs1684979540
• MyVariant Identifiers: chr2:g.112704991C>T (hg19) ; chr2:g.111947414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947414C>T , CM000664.2:g.111947414C>T	GRCh38
NC_000002.11:g.112704991C>T , CM000664.1:g.112704991C>T	GRCh37
NC_000002.10:g.112421462C>T	NCBI36
NG_011607.1:g.53801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.604C>T MANE Select	ENSP00000295408.4:p.Gln202Ter
ENST00000295408.8:c.604C>T	ENSP00000295408.4:p.Gln202Ter
ENST00000409780.5:c.76C>T	ENSP00000387277.1:p.Gln26Ter
ENST00000421804.6:c.604C>T	ENSP00000389152.2:p.Gln202Ter
ENST00000439966.5:c.*77C>T	ENSP00000402129.1:n.*77C>T
ENST00000616902.4:c.-612C>T	ENSP00000482824.1:n.-612C>T
NM_006343.2:c.604C>T	NP_006334.2:p.Gln202Ter
XM_005263565.3:c.604C>T	XP_005263622.1:p.Gln202Ter
XM_005263568.3:c.604C>T	XP_005263625.1:p.Gln202Ter
XM_011510490.1:c.415C>T	XP_011508792.1:p.Gln139Ter
XM_005263565.4:c.604C>T	XP_005263622.1:p.Gln202Ter
XM_005263568.4:c.604C>T	XP_005263625.1:p.Gln202Ter
XM_011510490.3:c.415C>T	XP_011508792.1:p.Gln139Ter
XM_017003164.1:c.415C>T	XP_016858653.1:p.Gln139Ter
XM_017003165.2:c.-664C>T	XP_016858654.1:n.-664C>T
NM_006343.3:c.604C>T MANE Select	NP_006334.2:p.Gln202Ter