Canonical Allele Identifier: CA236070

Gene: MERTK

Linked Data

• ClinVar Variation Id: 191125
• ClinVar RCV Id: RCV000171305 ; RCV001257796 ; RCV003987407
• dbSNP Id: rs786205535
• gnomAD v4: 2-112021494-C-G
• MyVariant Identifiers: chr2:g.112779071C>G (hg19) ; chr2:g.112021494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112021494C>G , CM000664.2:g.112021494C>G	GRCh38
NC_000002.11:g.112779071C>G , CM000664.1:g.112779071C>G	GRCh37
NC_000002.10:g.112495542C>G	NCBI36
NG_011607.1:g.127881C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2262C>G MANE Select	ENSP00000295408.4:p.Tyr754Ter
ENST00000295408.8:c.2262C>G	ENSP00000295408.4:p.Tyr754Ter
ENST00000409780.5:c.1734C>G	ENSP00000387277.1:p.Tyr578Ter
ENST00000421804.6:c.2262C>G	ENSP00000389152.2:p.Tyr754Ter
ENST00000439966.5:c.*1735C>G	ENSP00000402129.1:n.*1735C>G
ENST00000449344.2:c.234C>G	ENSP00000412660.2:p.Tyr78Ter
ENST00000616902.4:c.1218C>G	ENSP00000482824.1:p.Tyr406Ter
NM_006343.2:c.2262C>G	NP_006334.2:p.Tyr754Ter
XM_005263565.3:c.2262C>G	XP_005263622.1:p.Tyr754Ter
XM_011510490.1:c.2073C>G	XP_011508792.1:p.Tyr691Ter
XM_011510491.1:c.1047C>G	XP_011508793.1:p.Tyr349Ter
XM_005263565.4:c.2262C>G	XP_005263622.1:p.Tyr754Ter
XM_011510490.3:c.2073C>G	XP_011508792.1:p.Tyr691Ter
XM_017003164.1:c.2073C>G	XP_016858653.1:p.Tyr691Ter
XM_017003165.2:c.1047C>G	XP_016858654.1:p.Tyr349Ter
NM_006343.3:c.2262C>G MANE Select	NP_006334.2:p.Tyr754Ter