Canonical Allele Identifier: CA53570921

Gene: MERTK

Linked Data

• dbSNP Id: rs933552461
• gnomAD v2: 2-112705007-A-G
• gnomAD v4: 2-111947430-A-G
• MyVariant Identifiers: chr2:g.112705007A>G (hg19) ; chr2:g.111947430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947430A>G , CM000664.2:g.111947430A>G	GRCh38
NC_000002.11:g.112705007A>G , CM000664.1:g.112705007A>G	GRCh37
NC_000002.10:g.112421478A>G	NCBI36
NG_011607.1:g.53817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.620A>G MANE Select	ENSP00000295408.4:p.Asn207Ser
ENST00000295408.8:c.620A>G	ENSP00000295408.4:p.Asn207Ser
ENST00000409780.5:c.92A>G	ENSP00000387277.1:p.Asn31Ser
ENST00000421804.6:c.620A>G	ENSP00000389152.2:p.Asn207Ser
ENST00000439966.5:c.*93A>G	ENSP00000402129.1:n.*93A>G
ENST00000616902.4:c.-596A>G	ENSP00000482824.1:n.-596A>G
NM_006343.2:c.620A>G	NP_006334.2:p.Asn207Ser
XM_005263565.3:c.620A>G	XP_005263622.1:p.Asn207Ser
XM_005263568.3:c.620A>G	XP_005263625.1:p.Asn207Ser
XM_011510490.1:c.431A>G	XP_011508792.1:p.Asn144Ser
XM_005263565.4:c.620A>G	XP_005263622.1:p.Asn207Ser
XM_005263568.4:c.620A>G	XP_005263625.1:p.Asn207Ser
XM_011510490.3:c.431A>G	XP_011508792.1:p.Asn144Ser
XM_017003164.1:c.431A>G	XP_016858653.1:p.Asn144Ser
XM_017003165.2:c.-648A>G	XP_016858654.1:n.-648A>G
NM_006343.3:c.620A>G MANE Select	NP_006334.2:p.Asn207Ser