Canonical Allele Identifier: CA1831424

Gene: MERTK

Linked Data

• dbSNP Id: rs754130707
• ExAC: 2:112754839 T / C
• gnomAD v2: 2-112754839-T-C
• gnomAD v3: 2-111997262-T-C
• gnomAD v4: 2-111997262-T-C
• MyVariant Identifiers: chr2:g.112754839T>C (hg19) ; chr2:g.111997262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997262T>C , CM000664.2:g.111997262T>C	GRCh38
NC_000002.11:g.112754839T>C , CM000664.1:g.112754839T>C	GRCh37
NC_000002.10:g.112471310T>C	NCBI36
NG_011607.1:g.103649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1451-61T>C MANE Select	ENSP00000295408.4:n.1451-61T>C
ENST00000295408.8:c.1451-61T>C	ENSP00000295408.4:n.1451-61T>C
ENST00000409780.5:c.923-61T>C	ENSP00000387277.1:n.923-61T>C
ENST00000421804.6:c.1451-61T>C	ENSP00000389152.2:n.1451-61T>C
ENST00000439966.5:c.*924-61T>C	ENSP00000402129.1:n.*924-61T>C
ENST00000616902.4:c.414T>C	ENSP00000482824.1:p.Cys138=
NM_006343.2:c.1451-61T>C	NP_006334.2:n.1451-61T>C
XM_005263565.3:c.1451-61T>C	XP_005263622.1:n.1451-61T>C
XM_005263568.3:c.1451-61T>C	XP_005263625.1:n.1451-61T>C
XM_011510490.1:c.1262-61T>C	XP_011508792.1:n.1262-61T>C
XM_011510491.1:c.236-61T>C	XP_011508793.1:n.236-61T>C
XM_005263565.4:c.1451-61T>C	XP_005263622.1:n.1451-61T>C
XM_005263568.4:c.1451-61T>C	XP_005263625.1:n.1451-61T>C
XM_011510490.3:c.1262-61T>C	XP_011508792.1:n.1262-61T>C
XM_017003164.1:c.1262-61T>C	XP_016858653.1:n.1262-61T>C
XM_017003165.2:c.236-61T>C	XP_016858654.1:n.236-61T>C
NM_006343.3:c.1451-61T>C MANE Select	NP_006334.2:n.1451-61T>C