Canonical Allele Identifier: CA236069

Gene: MERTK

Linked Data

• ClinVar Variation Id: 191124
• ClinVar RCV Id: RCV000171304 ; RCV001257900 ; RCV003987406
• dbSNP Id: rs786205534
• gnomAD v4: 2-111997478-T-G
• MyVariant Identifiers: chr2:g.112755055T>G (hg19) ; chr2:g.111997478T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997478T>G , CM000664.2:g.111997478T>G	GRCh38
NC_000002.11:g.112755055T>G , CM000664.1:g.112755055T>G	GRCh37
NC_000002.10:g.112471526T>G	NCBI36
NG_011607.1:g.103865T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1604+2T>G MANE Select	ENSP00000295408.4:n.1604+2T>G
ENST00000295408.8:c.1604+2T>G	ENSP00000295408.4:n.1604+2T>G
ENST00000409780.5:c.1076+2T>G	ENSP00000387277.1:n.1076+2T>G
ENST00000421804.6:c.1604+2T>G	ENSP00000389152.2:n.1604+2T>G
ENST00000439966.5:c.*1077+2T>G	ENSP00000402129.1:n.*1077+2T>G
ENST00000473065.1:n.107+2T>G
ENST00000616902.4:c.569+2T>G	ENSP00000482824.1:n.569+2T>G
NM_006343.2:c.1604+2T>G	NP_006334.2:n.1604+2T>G
XM_005263565.3:c.1604+2T>G	XP_005263622.1:n.1604+2T>G
XM_005263568.3:c.1604+2T>G	XP_005263625.1:n.1604+2T>G
XM_011510490.1:c.1415+2T>G	XP_011508792.1:n.1415+2T>G
XM_011510491.1:c.389+2T>G	XP_011508793.1:n.389+2T>G
XM_005263565.4:c.1604+2T>G	XP_005263622.1:n.1604+2T>G
XM_005263568.4:c.1604+2T>G	XP_005263625.1:n.1604+2T>G
XM_011510490.3:c.1415+2T>G	XP_011508792.1:n.1415+2T>G
XM_017003164.1:c.1415+2T>G	XP_016858653.1:n.1415+2T>G
XM_017003165.2:c.389+2T>G	XP_016858654.1:n.389+2T>G
NM_006343.3:c.1604+2T>G MANE Select	NP_006334.2:n.1604+2T>G