Canonical Allele Identifier: CA348226746

Gene: MERTK

Linked Data

• dbSNP Id: rs1290900394
• gnomAD v3: 2-111929482-C-G
• gnomAD v4: 2-111929482-C-G
• MyVariant Identifiers: chr2:g.112687059C>G (hg19) ; chr2:g.111929482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929482C>G , CM000664.2:g.111929482C>G	GRCh38
NC_000002.11:g.112687059C>G , CM000664.1:g.112687059C>G	GRCh37
NC_000002.10:g.112403530C>G	NCBI36
NG_011607.1:g.35869C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.424C>G MANE Select	ENSP00000295408.4:p.His142Asp
ENST00000295408.8:c.424C>G	ENSP00000295408.4:p.His142Asp
ENST00000409780.5:c.-46-15478C>G	ENSP00000387277.1:n.-46-15478C>G
ENST00000421804.6:c.424C>G	ENSP00000389152.2:p.His142Asp
ENST00000439966.5:c.246+178C>G	ENSP00000402129.1:n.246+178C>G
ENST00000616902.4:c.-792C>G	ENSP00000482824.1:n.-792C>G
NM_006343.2:c.424C>G	NP_006334.2:p.His142Asp
XM_005263565.3:c.424C>G	XP_005263622.1:p.His142Asp
XM_005263568.3:c.424C>G	XP_005263625.1:p.His142Asp
XM_011510490.1:c.235C>G	XP_011508792.1:p.His79Asp
XM_005263565.4:c.424C>G	XP_005263622.1:p.His142Asp
XM_005263568.4:c.424C>G	XP_005263625.1:p.His142Asp
XM_011510490.3:c.235C>G	XP_011508792.1:p.His79Asp
XM_017003164.1:c.235C>G	XP_016858653.1:p.His79Asp
XM_017003165.2:c.-844C>G	XP_016858654.1:n.-844C>G
NM_006343.3:c.424C>G MANE Select	NP_006334.2:p.His142Asp