Canonical Allele Identifier: CA378965525

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.720858G>A , CM000673.2:g.720858G>A	GRCh38
NC_000011.9:g.720858G>A , CM000673.1:g.720858G>A	GRCh37
NC_000011.8:g.710858G>A	NCBI36
NG_051601.1:g.20642G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022772.4:c.506G>A MANE Select	NP_073609.2:p.Ser169Asn
ENST00000318562.13:c.506G>A MANE Select	ENSP00000320828.8:p.Ser169Asn
NM_022772.3:c.506G>A	NP_073609.2:p.Ser169Asn
ENST00000318562.12:c.506G>A	ENSP00000320828.8:p.Ser169Asn
ENST00000524474.5:n.170G>A
ENST00000526198.5:c.554G>A	ENSP00000436230.1:p.Ser185Asn
ENST00000526909.5:c.*1211G>A	ENSP00000433173.1:n.*1211G>A
ENST00000529346.5:n.718G>A
ENST00000530118.1:n.520G>A
ENST00000530636.5:c.506G>A	ENSP00000436035.1:p.Ser169Asn
ENST00000533256.5:c.506G>A	ENSP00000435585.1:p.Ser169Asn
ENST00000614442.4:c.554G>A	ENSP00000480201.1:p.Ser185Asn
ENST00000650127.1:c.506G>A	ENSP00000497389.1:p.Ser169Asn
XM_017018131.1:c.506G>A	XP_016873620.1:p.Ser169Asn
XM_017018132.1:c.506G>A	XP_016873621.1:p.Ser169Asn