Canonical Allele Identifier: CA348226453

Gene: MERTK

Linked Data

• gnomAD v4: 2-111929404-T-G
• MyVariant Identifiers: chr2:g.112686981T>G (hg19) ; chr2:g.111929404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929404T>G , CM000664.2:g.111929404T>G	GRCh38
NC_000002.11:g.112686981T>G , CM000664.1:g.112686981T>G	GRCh37
NC_000002.10:g.112403452T>G	NCBI36
NG_011607.1:g.35791T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.346T>G MANE Select	ENSP00000295408.4:p.Ser116Ala
ENST00000295408.8:c.346T>G	ENSP00000295408.4:p.Ser116Ala
ENST00000409780.5:c.-46-15556T>G	ENSP00000387277.1:n.-46-15556T>G
ENST00000421804.6:c.346T>G	ENSP00000389152.2:p.Ser116Ala
ENST00000439966.5:c.246+100T>G	ENSP00000402129.1:n.246+100T>G
ENST00000616902.4:c.-870T>G	ENSP00000482824.1:n.-870T>G
NM_006343.2:c.346T>G	NP_006334.2:p.Ser116Ala
XM_005263565.3:c.346T>G	XP_005263622.1:p.Ser116Ala
XM_005263568.3:c.346T>G	XP_005263625.1:p.Ser116Ala
XM_011510490.1:c.157T>G	XP_011508792.1:p.Ser53Ala
XM_005263565.4:c.346T>G	XP_005263622.1:p.Ser116Ala
XM_005263568.4:c.346T>G	XP_005263625.1:p.Ser116Ala
XM_011510490.3:c.157T>G	XP_011508792.1:p.Ser53Ala
XM_017003164.1:c.157T>G	XP_016858653.1:p.Ser53Ala
XM_017003165.2:c.-922T>G	XP_016858654.1:n.-922T>G
NM_006343.3:c.346T>G MANE Select	NP_006334.2:p.Ser116Ala