Canonical Allele Identifier: CA5787433

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.722108C>T , CM000673.2:g.722108C>T	GRCh38
NC_000011.9:g.722108C>T , CM000673.1:g.722108C>T	GRCh37
NC_000011.8:g.712108C>T	NCBI36
NG_051601.1:g.21892C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022772.4:c.1002C>T MANE Select	NP_073609.2:p.His334=
ENST00000318562.13:c.1002C>T MANE Select	ENSP00000320828.8:p.His334=
NM_022772.3:c.1002C>T	NP_073609.2:p.His334=
ENST00000318562.12:c.1002C>T	ENSP00000320828.8:p.His334=
ENST00000524474.5:n.666C>T
ENST00000526198.5:c.1050C>T	ENSP00000436230.1:p.His350=
ENST00000526651.5:n.472+117C>T
ENST00000526909.5:c.*1707C>T	ENSP00000433173.1:n.*1707C>T
ENST00000528770.5:c.345C>T
ENST00000529346.5:n.1524C>T
ENST00000530452.6:c.318-293C>T
ENST00000530636.5:c.1002C>T	ENSP00000436035.1:p.His334=
ENST00000531393.5:n.183C>T
ENST00000533256.5:c.1002C>T	ENSP00000435585.1:p.His334=
ENST00000533816.1:n.305C>T
ENST00000610855.4:c.-398C>T	ENSP00000480704.1:n.-398C>T
ENST00000614442.4:c.1050C>T	ENSP00000480201.1:p.His350=
ENST00000650127.1:c.1002C>T	ENSP00000497389.1:p.His334=
XM_017018131.1:c.1002C>T	XP_016873620.1:p.His334=
XM_017018132.1:c.1002C>T	XP_016873621.1:p.His334=