Canonical Allele Identifier: CA348229092

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705034T>A (hg19) ; chr2:g.111947457T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947457T>A , CM000664.2:g.111947457T>A	GRCh38
NC_000002.11:g.112705034T>A , CM000664.1:g.112705034T>A	GRCh37
NC_000002.10:g.112421505T>A	NCBI36
NG_011607.1:g.53844T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.647T>A MANE Select	ENSP00000295408.4:p.Leu216His
ENST00000295408.8:c.647T>A	ENSP00000295408.4:p.Leu216His
ENST00000409780.5:c.119T>A	ENSP00000387277.1:p.Leu40His
ENST00000421804.6:c.647T>A	ENSP00000389152.2:p.Leu216His
ENST00000439966.5:c.*120T>A	ENSP00000402129.1:n.*120T>A
ENST00000616902.4:c.-569T>A	ENSP00000482824.1:n.-569T>A
NM_006343.2:c.647T>A	NP_006334.2:p.Leu216His
XM_005263565.3:c.647T>A	XP_005263622.1:p.Leu216His
XM_005263568.3:c.647T>A	XP_005263625.1:p.Leu216His
XM_011510490.1:c.458T>A	XP_011508792.1:p.Leu153His
XM_005263565.4:c.647T>A	XP_005263622.1:p.Leu216His
XM_005263568.4:c.647T>A	XP_005263625.1:p.Leu216His
XM_011510490.3:c.458T>A	XP_011508792.1:p.Leu153His
XM_017003164.1:c.458T>A	XP_016858653.1:p.Leu153His
XM_017003165.2:c.-621T>A	XP_016858654.1:n.-621T>A
NM_006343.3:c.647T>A MANE Select	NP_006334.2:p.Leu216His