Canonical Allele Identifier: CA1831467

Gene: MERTK

Linked Data

• dbSNP Id: rs777370059
• ExAC: 2:112755074 T / C
• gnomAD v2: 2-112755074-T-C
• gnomAD v3: 2-111997497-T-C
• gnomAD v4: 2-111997497-T-C
• MyVariant Identifiers: chr2:g.112755074T>C (hg19) ; chr2:g.111997497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997497T>C , CM000664.2:g.111997497T>C	GRCh38
NC_000002.11:g.112755074T>C , CM000664.1:g.112755074T>C	GRCh37
NC_000002.10:g.112471545T>C	NCBI36
NG_011607.1:g.103884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1604+21T>C MANE Select	ENSP00000295408.4:n.1604+21T>C
ENST00000295408.8:c.1604+21T>C	ENSP00000295408.4:n.1604+21T>C
ENST00000409780.5:c.1076+21T>C	ENSP00000387277.1:n.1076+21T>C
ENST00000421804.6:c.1604+21T>C	ENSP00000389152.2:n.1604+21T>C
ENST00000439966.5:c.*1077+21T>C	ENSP00000402129.1:n.*1077+21T>C
ENST00000473065.1:n.107+21T>C
ENST00000616902.4:c.569+21T>C	ENSP00000482824.1:n.569+21T>C
NM_006343.2:c.1604+21T>C	NP_006334.2:n.1604+21T>C
XM_005263565.3:c.1604+21T>C	XP_005263622.1:n.1604+21T>C
XM_005263568.3:c.1604+21T>C	XP_005263625.1:n.1604+21T>C
XM_011510490.1:c.1415+21T>C	XP_011508792.1:n.1415+21T>C
XM_011510491.1:c.389+21T>C	XP_011508793.1:n.389+21T>C
XM_005263565.4:c.1604+21T>C	XP_005263622.1:n.1604+21T>C
XM_005263568.4:c.1604+21T>C	XP_005263625.1:n.1604+21T>C
XM_011510490.3:c.1415+21T>C	XP_011508792.1:n.1415+21T>C
XM_017003164.1:c.1415+21T>C	XP_016858653.1:n.1415+21T>C
XM_017003165.2:c.389+21T>C	XP_016858654.1:n.389+21T>C
NM_006343.3:c.1604+21T>C MANE Select	NP_006334.2:n.1604+21T>C