Canonical Allele Identifier: CA348226917

Gene: MERTK

Linked Data

• gnomAD v4: 2-111929527-A-T
• MyVariant Identifiers: chr2:g.112687104A>T (hg19) ; chr2:g.111929527A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929527A>T , CM000664.2:g.111929527A>T	GRCh38
NC_000002.11:g.112687104A>T , CM000664.1:g.112687104A>T	GRCh37
NC_000002.10:g.112403575A>T	NCBI36
NG_011607.1:g.35914A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.469A>T MANE Select	ENSP00000295408.4:p.Ile157Phe
ENST00000295408.8:c.469A>T	ENSP00000295408.4:p.Ile157Phe
ENST00000409780.5:c.-46-15433A>T	ENSP00000387277.1:n.-46-15433A>T
ENST00000421804.6:c.469A>T	ENSP00000389152.2:p.Ile157Phe
ENST00000439966.5:c.246+223A>T	ENSP00000402129.1:n.246+223A>T
ENST00000616902.4:c.-747A>T	ENSP00000482824.1:n.-747A>T
NM_006343.2:c.469A>T	NP_006334.2:p.Ile157Phe
XM_005263565.3:c.469A>T	XP_005263622.1:p.Ile157Phe
XM_005263568.3:c.469A>T	XP_005263625.1:p.Ile157Phe
XM_011510490.1:c.280A>T	XP_011508792.1:p.Ile94Phe
XM_005263565.4:c.469A>T	XP_005263622.1:p.Ile157Phe
XM_005263568.4:c.469A>T	XP_005263625.1:p.Ile157Phe
XM_011510490.3:c.280A>T	XP_011508792.1:p.Ile94Phe
XM_017003164.1:c.280A>T	XP_016858653.1:p.Ile94Phe
XM_017003165.2:c.-799A>T	XP_016858654.1:n.-799A>T
NM_006343.3:c.469A>T MANE Select	NP_006334.2:p.Ile157Phe