Canonical Allele Identifier: CA1831452

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1954179
• ClinVar RCV Id: RCV002705414
• dbSNP Id: rs770513563
• ExAC: 2:112754965 T / G
• gnomAD v2: 2-112754965-T-G
• gnomAD v3: 2-111997388-T-G
• gnomAD v4: 2-111997388-T-G
• MyVariant Identifiers: chr2:g.112754965T>G (hg19) ; chr2:g.111997388T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997388T>G , CM000664.2:g.111997388T>G	GRCh38
NC_000002.11:g.112754965T>G , CM000664.1:g.112754965T>G	GRCh37
NC_000002.10:g.112471436T>G	NCBI36
NG_011607.1:g.103775T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1516T>G MANE Select	ENSP00000295408.4:p.Phe506Val
ENST00000295408.8:c.1516T>G	ENSP00000295408.4:p.Phe506Val
ENST00000409780.5:c.988T>G	ENSP00000387277.1:p.Phe330Val
ENST00000421804.6:c.1516T>G	ENSP00000389152.2:p.Phe506Val
ENST00000439966.5:c.*989T>G	ENSP00000402129.1:n.*989T>G
ENST00000473065.1:n.19T>G
ENST00000616902.4:c.485T>G	ENSP00000482824.1:p.Leu162Arg
NM_006343.2:c.1516T>G	NP_006334.2:p.Phe506Val
XM_005263565.3:c.1516T>G	XP_005263622.1:p.Phe506Val
XM_005263568.3:c.1516T>G	XP_005263625.1:p.Phe506Val
XM_011510490.1:c.1327T>G	XP_011508792.1:p.Phe443Val
XM_011510491.1:c.301T>G	XP_011508793.1:p.Phe101Val
XM_005263565.4:c.1516T>G	XP_005263622.1:p.Phe506Val
XM_005263568.4:c.1516T>G	XP_005263625.1:p.Phe506Val
XM_011510490.3:c.1327T>G	XP_011508792.1:p.Phe443Val
XM_017003164.1:c.1327T>G	XP_016858653.1:p.Phe443Val
XM_017003165.2:c.301T>G	XP_016858654.1:p.Phe101Val
NM_006343.3:c.1516T>G MANE Select	NP_006334.2:p.Phe506Val