Canonical Allele Identifier: CA1831112

Gene: MERTK

Linked Data

• dbSNP Id: rs774444027
• ExAC: 2:112704981 C / T
• gnomAD v2: 2-112704981-C-T
• gnomAD v3: 2-111947404-C-T
• gnomAD v4: 2-111947404-C-T
• MyVariant Identifiers: chr2:g.112704981C>T (hg19) ; chr2:g.111947404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947404C>T , CM000664.2:g.111947404C>T	GRCh38
NC_000002.11:g.112704981C>T , CM000664.1:g.112704981C>T	GRCh37
NC_000002.10:g.112421452C>T	NCBI36
NG_011607.1:g.53791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.594C>T MANE Select	ENSP00000295408.4:p.His198=
ENST00000295408.8:c.594C>T	ENSP00000295408.4:p.His198=
ENST00000409780.5:c.66C>T	ENSP00000387277.1:p.His22=
ENST00000421804.6:c.594C>T	ENSP00000389152.2:p.His198=
ENST00000439966.5:c.*67C>T	ENSP00000402129.1:n.*67C>T
ENST00000616902.4:c.-622C>T	ENSP00000482824.1:n.-622C>T
NM_006343.2:c.594C>T	NP_006334.2:p.His198=
XM_005263565.3:c.594C>T	XP_005263622.1:p.His198=
XM_005263568.3:c.594C>T	XP_005263625.1:p.His198=
XM_011510490.1:c.405C>T	XP_011508792.1:p.His135=
XM_005263565.4:c.594C>T	XP_005263622.1:p.His198=
XM_005263568.4:c.594C>T	XP_005263625.1:p.His198=
XM_011510490.3:c.405C>T	XP_011508792.1:p.His135=
XM_017003164.1:c.405C>T	XP_016858653.1:p.His135=
XM_017003165.2:c.-674C>T	XP_016858654.1:n.-674C>T
NM_006343.3:c.594C>T MANE Select	NP_006334.2:p.His198=