Canonical Allele Identifier: CA2248421408

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992876G= , CM000679.2:g.12992876G=	GRCh38
NC_000017.10:g.12896193G= , CM000679.1:g.12896193G=	GRCh37
NC_000017.9:g.12836918G=	NCBI36
NG_015808.1:g.30189C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2423C= MANE Select	ENSP00000337445.4:p.Pro808=
ENST00000338034.8:c.2423C=	ENSP00000337445.4:p.Pro808=
ENST00000395962.6:c.2366C=	ENSP00000379291.1:p.Pro789=
ENST00000426905.7:c.2303C=	ENSP00000405223.3:p.Pro768=
ENST00000465825.5:n.2310C=
ENST00000480891.5:n.2252C=
ENST00000484122.5:n.3253C=
ENST00000487229.6:n.1969C=
ENST00000584650.5:c.1822C=
NM_001165962.1:c.2303C=	NP_001159434.1:p.Pro768=
NM_018127.6:c.2423C=	NP_060597.4:p.Pro808=
NM_173717.1:c.2420C=	NP_776065.1:p.Pro807=
XM_024450850.1:c.2582C=	XP_024306618.1:p.Pro861=
XM_024450851.1:c.2504C=	XP_024306619.1:p.Pro835=
XM_024450852.1:c.2501C=	XP_024306620.1:p.Pro834=
XM_024450853.1:c.2498C=	XP_024306621.1:p.Pro833=
XM_024450854.1:c.2462C=	XP_024306622.1:p.Pro821=
XM_024450855.1:c.2381C=	XP_024306623.1:p.Pro794=
XM_024450856.1:c.2300C=	XP_024306624.1:p.Pro767=
XM_024450857.1:c.2300C=	XP_024306625.1:p.Pro767=
XM_024450858.1:c.2219C=	XP_024306626.1:p.Pro740=
XM_024450859.1:c.2216C=	XP_024306627.1:p.Pro739=
XM_024450860.1:c.2141C=	XP_024306628.1:p.Pro714=
XM_024450861.1:c.2141C=	XP_024306629.1:p.Pro714=
XM_024450862.1:c.2138C=	XP_024306630.1:p.Pro713=
NM_018127.7:c.2423C= MANE Select	NP_060597.4:p.Pro808=
NM_001165962.2:c.2303C=	NP_001159434.1:p.Pro768=
NM_173717.2:c.2420C=	NP_776065.1:p.Pro807=