Canonical Allele Identifier: CA1831581

Gene: MERTK

Linked Data

• dbSNP Id: rs755221937
• ExAC: 2:112765966 A / C
• gnomAD v2: 2-112765966-A-C
• gnomAD v4: 2-112008389-A-C
• MyVariant Identifiers: chr2:g.112765966A>C (hg19) ; chr2:g.112008389A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008389A>C , CM000664.2:g.112008389A>C	GRCh38
NC_000002.11:g.112765966A>C , CM000664.1:g.112765966A>C	GRCh37
NC_000002.10:g.112482437A>C	NCBI36
NG_011607.1:g.114776A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1874A>C MANE Select	ENSP00000295408.4:p.Asn625Thr
ENST00000295408.8:c.1874A>C	ENSP00000295408.4:p.Asn625Thr
ENST00000409780.5:c.1346A>C	ENSP00000387277.1:p.Asn449Thr
ENST00000421804.6:c.1874A>C	ENSP00000389152.2:p.Asn625Thr
ENST00000439966.5:c.*1347A>C	ENSP00000402129.1:n.*1347A>C
ENST00000616902.4:c.839A>C	ENSP00000482824.1:p.Asn280Thr
NM_006343.2:c.1874A>C	NP_006334.2:p.Asn625Thr
XM_005263565.3:c.1874A>C	XP_005263622.1:p.Asn625Thr
XM_005263568.3:c.1874A>C	XP_005263625.1:p.Asn625Thr
XM_011510490.1:c.1685A>C	XP_011508792.1:p.Asn562Thr
XM_011510491.1:c.659A>C	XP_011508793.1:p.Asn220Thr
XM_005263565.4:c.1874A>C	XP_005263622.1:p.Asn625Thr
XM_005263568.4:c.1874A>C	XP_005263625.1:p.Asn625Thr
XM_011510490.3:c.1685A>C	XP_011508792.1:p.Asn562Thr
XM_017003164.1:c.1685A>C	XP_016858653.1:p.Asn562Thr
XM_017003165.2:c.659A>C	XP_016858654.1:p.Asn220Thr
NM_006343.3:c.1874A>C MANE Select	NP_006334.2:p.Asn625Thr