Canonical Allele Identifier: CA216939407

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.721067A>G , CM000673.2:g.721067A>G	GRCh38
NC_000011.9:g.721067A>G , CM000673.1:g.721067A>G	GRCh37
NC_000011.8:g.711067A>G	NCBI36
NG_051601.1:g.20851A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022772.4:c.561A>G MANE Select	NP_073609.2:p.Gly187=
ENST00000318562.13:c.561A>G MANE Select	ENSP00000320828.8:p.Gly187=
NM_022772.3:c.561A>G	NP_073609.2:p.Gly187=
ENST00000318562.12:c.561A>G	ENSP00000320828.8:p.Gly187=
ENST00000524474.5:n.225A>G
ENST00000526198.5:c.609A>G	ENSP00000436230.1:p.Gly203=
ENST00000526651.5:n.49A>G
ENST00000526909.5:c.*1266A>G	ENSP00000433173.1:n.*1266A>G
ENST00000529346.5:n.773A>G
ENST00000530636.5:c.561A>G	ENSP00000436035.1:p.Gly187=
ENST00000531471.1:n.96A>G
ENST00000533256.5:c.561A>G	ENSP00000435585.1:p.Gly187=
ENST00000614442.4:c.609A>G	ENSP00000480201.1:p.Gly203=
ENST00000650127.1:c.561A>G	ENSP00000497389.1:p.Gly187=
XM_017018131.1:c.561A>G	XP_016873620.1:p.Gly187=
XM_017018132.1:c.561A>G	XP_016873621.1:p.Gly187=