Canonical Allele Identifier: CA2248421775

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993027G= , CM000679.2:g.12993027G=	GRCh38
NC_000017.10:g.12896344G= , CM000679.1:g.12896344G=	GRCh37
NC_000017.9:g.12837069G=	NCBI36
NG_015808.1:g.30038C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2272C= MANE Select	ENSP00000337445.4:p.Pro758=
ENST00000338034.8:c.2272C=	ENSP00000337445.4:p.Pro758=
ENST00000395962.6:c.2215C=	ENSP00000379291.1:p.Pro739=
ENST00000426905.7:c.2152C=	ENSP00000405223.3:p.Pro718=
ENST00000465825.5:n.2159C=
ENST00000480891.5:n.2101C=
ENST00000484122.5:n.3102C=
ENST00000487229.6:n.1818C=
ENST00000584650.5:c.1671C=
NM_001165962.1:c.2152C=	NP_001159434.1:p.Pro718=
NM_018127.6:c.2272C=	NP_060597.4:p.Pro758=
NM_173717.1:c.2269C=	NP_776065.1:p.Pro757=
XM_024450850.1:c.2431C=	XP_024306618.1:p.Pro811=
XM_024450851.1:c.2353C=	XP_024306619.1:p.Pro785=
XM_024450852.1:c.2350C=	XP_024306620.1:p.Pro784=
XM_024450853.1:c.2347C=	XP_024306621.1:p.Pro783=
XM_024450854.1:c.2311C=	XP_024306622.1:p.Pro771=
XM_024450855.1:c.2230C=	XP_024306623.1:p.Pro744=
XM_024450856.1:c.2149C=	XP_024306624.1:p.Pro717=
XM_024450857.1:c.2149C=	XP_024306625.1:p.Pro717=
XM_024450858.1:c.2068C=	XP_024306626.1:p.Pro690=
XM_024450859.1:c.2065C=	XP_024306627.1:p.Pro689=
XM_024450860.1:c.1990C=	XP_024306628.1:p.Pro664=
XM_024450861.1:c.1990C=	XP_024306629.1:p.Pro664=
XM_024450862.1:c.1987C=	XP_024306630.1:p.Pro663=
NM_018127.7:c.2272C= MANE Select	NP_060597.4:p.Pro758=
NM_001165962.2:c.2152C=	NP_001159434.1:p.Pro718=
NM_173717.2:c.2269C=	NP_776065.1:p.Pro757=