Canonical Allele Identifier: CA348229224

Gene: MERTK

Linked Data

• dbSNP Id: rs1447758333
• gnomAD v3: 2-111947517-G-T
• gnomAD v4: 2-111947517-G-T
• MyVariant Identifiers: chr2:g.112705094G>T (hg19) ; chr2:g.111947517G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947517G>T , CM000664.2:g.111947517G>T	GRCh38
NC_000002.11:g.112705094G>T , CM000664.1:g.112705094G>T	GRCh37
NC_000002.10:g.112421565G>T	NCBI36
NG_011607.1:g.53904G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.707G>T MANE Select	ENSP00000295408.4:p.Ser236Ile
ENST00000295408.8:c.707G>T	ENSP00000295408.4:p.Ser236Ile
ENST00000409780.5:c.179G>T	ENSP00000387277.1:p.Ser60Ile
ENST00000421804.6:c.707G>T	ENSP00000389152.2:p.Ser236Ile
ENST00000439966.5:c.*180G>T	ENSP00000402129.1:n.*180G>T
ENST00000616902.4:c.-509G>T	ENSP00000482824.1:n.-509G>T
NM_006343.2:c.707G>T	NP_006334.2:p.Ser236Ile
XM_005263565.3:c.707G>T	XP_005263622.1:p.Ser236Ile
XM_005263568.3:c.707G>T	XP_005263625.1:p.Ser236Ile
XM_011510490.1:c.518G>T	XP_011508792.1:p.Ser173Ile
XM_005263565.4:c.707G>T	XP_005263622.1:p.Ser236Ile
XM_005263568.4:c.707G>T	XP_005263625.1:p.Ser236Ile
XM_011510490.3:c.518G>T	XP_011508792.1:p.Ser173Ile
XM_017003164.1:c.518G>T	XP_016858653.1:p.Ser173Ile
XM_017003165.2:c.-561G>T	XP_016858654.1:n.-561G>T
NM_006343.3:c.707G>T MANE Select	NP_006334.2:p.Ser236Ile