Canonical Allele Identifier: CA348240272

Gene: MERTK

Linked Data

• ClinVar Variation Id: 522500
• ClinVar RCV Id: RCV000625642
• dbSNP Id: rs1309140887
• MyVariant Identifiers: chr2:g.112779972G>A (hg19) ; chr2:g.112022395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112022395G>A , CM000664.2:g.112022395G>A	GRCh38
NC_000002.11:g.112779972G>A , CM000664.1:g.112779972G>A	GRCh37
NC_000002.10:g.112496443G>A	NCBI36
NG_011607.1:g.128782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2486+1G>A MANE Select	ENSP00000295408.4:n.2486+1G>A
ENST00000295408.8:c.2486+1G>A	ENSP00000295408.4:n.2486+1G>A
ENST00000409780.5:c.1958+1G>A	ENSP00000387277.1:n.1958+1G>A
ENST00000421804.6:c.2486+1G>A	ENSP00000389152.2:n.2486+1G>A
ENST00000439966.5:c.*1959+1G>A	ENSP00000402129.1:n.*1959+1G>A
ENST00000449344.2:c.458+1G>A	ENSP00000412660.2:n.458+1G>A
ENST00000616902.4:c.1426+17G>A	ENSP00000482824.1:n.1426+17G>A
NM_006343.2:c.2486+1G>A	NP_006334.2:n.2486+1G>A
XM_005263565.3:c.2486+1G>A	XP_005263622.1:n.2486+1G>A
XM_011510490.1:c.2297+1G>A	XP_011508792.1:n.2297+1G>A
XM_011510491.1:c.1271+1G>A	XP_011508793.1:n.1271+1G>A
XM_005263565.4:c.2486+1G>A	XP_005263622.1:n.2486+1G>A
XM_011510490.3:c.2297+1G>A	XP_011508792.1:n.2297+1G>A
XM_017003164.1:c.2297+1G>A	XP_016858653.1:n.2297+1G>A
XM_017003165.2:c.1271+1G>A	XP_016858654.1:n.1271+1G>A
NM_006343.3:c.2486+1G>A MANE Select	NP_006334.2:n.2486+1G>A