Canonical Allele Identifier: CA428270368

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2123848
• ClinVar RCV Id: RCV003055283
• dbSNP Id: rs1488441379
• gnomAD v2: 2-112705086-A-G
• gnomAD v4: 2-111947509-A-G
• MyVariant Identifiers: chr2:g.112705086A>G (hg19) ; chr2:g.111947509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947509A>G , CM000664.2:g.111947509A>G	GRCh38
NC_000002.11:g.112705086A>G , CM000664.1:g.112705086A>G	GRCh37
NC_000002.10:g.112421557A>G	NCBI36
NG_011607.1:g.53896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.699A>G MANE Select	ENSP00000295408.4:p.Gln233=
ENST00000295408.8:c.699A>G	ENSP00000295408.4:p.Gln233=
ENST00000409780.5:c.171A>G	ENSP00000387277.1:p.Gln57=
ENST00000421804.6:c.699A>G	ENSP00000389152.2:p.Gln233=
ENST00000439966.5:c.*172A>G	ENSP00000402129.1:n.*172A>G
ENST00000616902.4:c.-517A>G	ENSP00000482824.1:n.-517A>G
NM_006343.2:c.699A>G	NP_006334.2:p.Gln233=
XM_005263565.3:c.699A>G	XP_005263622.1:p.Gln233=
XM_005263568.3:c.699A>G	XP_005263625.1:p.Gln233=
XM_011510490.1:c.510A>G	XP_011508792.1:p.Gln170=
XM_005263565.4:c.699A>G	XP_005263622.1:p.Gln233=
XM_005263568.4:c.699A>G	XP_005263625.1:p.Gln233=
XM_011510490.3:c.510A>G	XP_011508792.1:p.Gln170=
XM_017003164.1:c.510A>G	XP_016858653.1:p.Gln170=
XM_017003165.2:c.-569A>G	XP_016858654.1:n.-569A>G
NM_006343.3:c.699A>G MANE Select	NP_006334.2:p.Gln233=