Canonical Allele Identifier: CA180189

Gene: MERTK

Linked Data

• ClinVar Variation Id: 167290
• ClinVar RCV Id: RCV000153489 ; RCV000319507 ; RCV001522861 ; RCV001775638 ; RCV003888591
• dbSNP Id: rs10205793
• ExAC: 2:112786357 G / A
• gnomAD v2: 2-112786357-G-A
• gnomAD v3: 2-112028780-G-A
• gnomAD v4: 2-112028780-G-A
• MyVariant Identifiers: chr2:g.112786357G>A (hg19) ; chr2:g.112028780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112028780G>A , CM000664.2:g.112028780G>A	GRCh38
NC_000002.11:g.112786357G>A , CM000664.1:g.112786357G>A	GRCh37
NC_000002.10:g.112502828G>A	NCBI36
NG_011607.1:g.135167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2916G>A MANE Select	ENSP00000295408.4:p.Ser972=
ENST00000295408.8:c.2916G>A	ENSP00000295408.4:p.Ser972=
ENST00000409780.5:c.2388G>A	ENSP00000387277.1:p.Ser796=
ENST00000421804.6:c.2916G>A	ENSP00000389152.2:p.Ser972=
ENST00000439966.5:c.*2389G>A	ENSP00000402129.1:n.*2389G>A
NM_006343.2:c.2916G>A	NP_006334.2:p.Ser972=
XM_005263565.3:c.2486+6386G>A	XP_005263622.1:n.2486+6386G>A
XM_011510490.1:c.2727G>A	XP_011508792.1:p.Ser909=
XM_011510491.1:c.1701G>A	XP_011508793.1:p.Ser567=
XM_005263565.4:c.2486+6386G>A	XP_005263622.1:n.2486+6386G>A
XM_011510490.3:c.2727G>A	XP_011508792.1:p.Ser909=
XM_017003164.1:c.2727G>A	XP_016858653.1:p.Ser909=
XM_017003165.2:c.1701G>A	XP_016858654.1:p.Ser567=
NM_006343.3:c.2916G>A MANE Select	NP_006334.2:p.Ser972=