Canonical Allele Identifier: CA1831466

Gene: MERTK

Linked Data

• dbSNP Id: rs755544970
• ExAC: 2:112755072 A / T
• gnomAD v2: 2-112755072-A-T
• gnomAD v4: 2-111997495-A-T
• MyVariant Identifiers: chr2:g.112755072A>T (hg19) ; chr2:g.111997495A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997495A>T , CM000664.2:g.111997495A>T	GRCh38
NC_000002.11:g.112755072A>T , CM000664.1:g.112755072A>T	GRCh37
NC_000002.10:g.112471543A>T	NCBI36
NG_011607.1:g.103882A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1604+19A>T MANE Select	ENSP00000295408.4:n.1604+19A>T
ENST00000295408.8:c.1604+19A>T	ENSP00000295408.4:n.1604+19A>T
ENST00000409780.5:c.1076+19A>T	ENSP00000387277.1:n.1076+19A>T
ENST00000421804.6:c.1604+19A>T	ENSP00000389152.2:n.1604+19A>T
ENST00000439966.5:c.*1077+19A>T	ENSP00000402129.1:n.*1077+19A>T
ENST00000473065.1:n.107+19A>T
ENST00000616902.4:c.569+19A>T	ENSP00000482824.1:n.569+19A>T
NM_006343.2:c.1604+19A>T	NP_006334.2:n.1604+19A>T
XM_005263565.3:c.1604+19A>T	XP_005263622.1:n.1604+19A>T
XM_005263568.3:c.1604+19A>T	XP_005263625.1:n.1604+19A>T
XM_011510490.1:c.1415+19A>T	XP_011508792.1:n.1415+19A>T
XM_011510491.1:c.389+19A>T	XP_011508793.1:n.389+19A>T
XM_005263565.4:c.1604+19A>T	XP_005263622.1:n.1604+19A>T
XM_005263568.4:c.1604+19A>T	XP_005263625.1:n.1604+19A>T
XM_011510490.3:c.1415+19A>T	XP_011508792.1:n.1415+19A>T
XM_017003164.1:c.1415+19A>T	XP_016858653.1:n.1415+19A>T
XM_017003165.2:c.389+19A>T	XP_016858654.1:n.389+19A>T
NM_006343.3:c.1604+19A>T MANE Select	NP_006334.2:n.1604+19A>T