Canonical Allele Identifier: CA348233386

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2130395
• ClinVar RCV Id: RCV003044522
• MyVariant Identifiers: chr2:g.112766040A>T (hg19) ; chr2:g.112008463A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008463A>T , CM000664.2:g.112008463A>T	GRCh38
NC_000002.11:g.112766040A>T , CM000664.1:g.112766040A>T	GRCh37
NC_000002.10:g.112482511A>T	NCBI36
NG_011607.1:g.114850A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1948A>T MANE Select	ENSP00000295408.4:p.Ile650Phe
ENST00000295408.8:c.1948A>T	ENSP00000295408.4:p.Ile650Phe
ENST00000409780.5:c.1420A>T	ENSP00000387277.1:p.Ile474Phe
ENST00000421804.6:c.1948A>T	ENSP00000389152.2:p.Ile650Phe
ENST00000439966.5:c.*1421A>T	ENSP00000402129.1:n.*1421A>T
ENST00000616902.4:c.913A>T	ENSP00000482824.1:p.Ile305Phe
NM_006343.2:c.1948A>T	NP_006334.2:p.Ile650Phe
XM_005263565.3:c.1948A>T	XP_005263622.1:p.Ile650Phe
XM_005263568.3:c.1948A>T	XP_005263625.1:p.Ile650Phe
XM_011510490.1:c.1759A>T	XP_011508792.1:p.Ile587Phe
XM_011510491.1:c.733A>T	XP_011508793.1:p.Ile245Phe
XM_005263565.4:c.1948A>T	XP_005263622.1:p.Ile650Phe
XM_005263568.4:c.1948A>T	XP_005263625.1:p.Ile650Phe
XM_011510490.3:c.1759A>T	XP_011508792.1:p.Ile587Phe
XM_017003164.1:c.1759A>T	XP_016858653.1:p.Ile587Phe
XM_017003165.2:c.733A>T	XP_016858654.1:p.Ile245Phe
NM_006343.3:c.1948A>T MANE Select	NP_006334.2:p.Ile650Phe