Canonical Allele Identifier: CA348229191

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705081G>C (hg19) ; chr2:g.111947504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947504G>C , CM000664.2:g.111947504G>C	GRCh38
NC_000002.11:g.112705081G>C , CM000664.1:g.112705081G>C	GRCh37
NC_000002.10:g.112421552G>C	NCBI36
NG_011607.1:g.53891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.694G>C MANE Select	ENSP00000295408.4:p.Val232Leu
ENST00000295408.8:c.694G>C	ENSP00000295408.4:p.Val232Leu
ENST00000409780.5:c.166G>C	ENSP00000387277.1:p.Val56Leu
ENST00000421804.6:c.694G>C	ENSP00000389152.2:p.Val232Leu
ENST00000439966.5:c.*167G>C	ENSP00000402129.1:n.*167G>C
ENST00000616902.4:c.-522G>C	ENSP00000482824.1:n.-522G>C
NM_006343.2:c.694G>C	NP_006334.2:p.Val232Leu
XM_005263565.3:c.694G>C	XP_005263622.1:p.Val232Leu
XM_005263568.3:c.694G>C	XP_005263625.1:p.Val232Leu
XM_011510490.1:c.505G>C	XP_011508792.1:p.Val169Leu
XM_005263565.4:c.694G>C	XP_005263622.1:p.Val232Leu
XM_005263568.4:c.694G>C	XP_005263625.1:p.Val232Leu
XM_011510490.3:c.505G>C	XP_011508792.1:p.Val169Leu
XM_017003164.1:c.505G>C	XP_016858653.1:p.Val169Leu
XM_017003165.2:c.-574G>C	XP_016858654.1:n.-574G>C
NM_006343.3:c.694G>C MANE Select	NP_006334.2:p.Val232Leu