Canonical Allele Identifier: CA5787396

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.721999C>A , CM000673.2:g.721999C>A	GRCh38
NC_000011.9:g.721999C>A , CM000673.1:g.721999C>A	GRCh37
NC_000011.8:g.711999C>A	NCBI36
NG_051601.1:g.21783C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022772.4:c.984+8C>A MANE Select	NP_073609.2:n.984+8C>A
ENST00000318562.13:c.984+8C>A MANE Select	ENSP00000320828.8:n.984+8C>A
NM_022772.3:c.984+8C>A	NP_073609.2:n.984+8C>A
ENST00000318562.12:c.984+8C>A	ENSP00000320828.8:n.984+8C>A
ENST00000524474.5:n.648+8C>A
ENST00000526198.5:c.1032+8C>A	ENSP00000436230.1:n.1032+8C>A
ENST00000526651.5:n.472+8C>A
ENST00000526909.5:c.*1689+8C>A	ENSP00000433173.1:n.*1689+8C>A
ENST00000528770.5:c.328-92C>A
ENST00000529346.5:n.1415C>A
ENST00000530452.6:c.317+308C>A
ENST00000530636.5:c.984+8C>A	ENSP00000436035.1:n.984+8C>A
ENST00000531393.5:n.74C>A
ENST00000533256.5:c.984+8C>A	ENSP00000435585.1:n.984+8C>A
ENST00000533816.1:n.287+8C>A
ENST00000610855.4:c.-507C>A	ENSP00000480704.1:n.-507C>A
ENST00000614442.4:c.1032+8C>A	ENSP00000480201.1:n.1032+8C>A
ENST00000650127.1:c.984+8C>A	ENSP00000497389.1:n.984+8C>A
XM_017018131.1:c.984+8C>A	XP_016873620.1:n.984+8C>A
XM_017018132.1:c.984+8C>A	XP_016873621.1:n.984+8C>A