Canonical Allele Identifier: CA428270374

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2123849
• ClinVar RCV Id: RCV003035619
• MyVariant Identifiers: chr2:g.112705092T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947515T>C , CM000664.2:g.111947515T>C	GRCh38
NC_000002.11:g.112705092T>C , CM000664.1:g.112705092T>C	GRCh37
NC_000002.10:g.112421563T>C	NCBI36
NG_011607.1:g.53902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.705T>C MANE Select	ENSP00000295408.4:p.Ser235=
ENST00000295408.8:c.705T>C	ENSP00000295408.4:p.Ser235=
ENST00000409780.5:c.177T>C	ENSP00000387277.1:p.Ser59=
ENST00000421804.6:c.705T>C	ENSP00000389152.2:p.Ser235=
ENST00000439966.5:c.*178T>C	ENSP00000402129.1:n.*178T>C
ENST00000616902.4:c.-511T>C	ENSP00000482824.1:n.-511T>C
NM_006343.2:c.705T>C	NP_006334.2:p.Ser235=
XM_005263565.3:c.705T>C	XP_005263622.1:p.Ser235=
XM_005263568.3:c.705T>C	XP_005263625.1:p.Ser235=
XM_011510490.1:c.516T>C	XP_011508792.1:p.Ser172=
XM_005263565.4:c.705T>C	XP_005263622.1:p.Ser235=
XM_005263568.4:c.705T>C	XP_005263625.1:p.Ser235=
XM_011510490.3:c.516T>C	XP_011508792.1:p.Ser172=
XM_017003164.1:c.516T>C	XP_016858653.1:p.Ser172=
XM_017003165.2:c.-563T>C	XP_016858654.1:n.-563T>C
NM_006343.3:c.705T>C MANE Select	NP_006334.2:p.Ser235=