Canonical Allele Identifier: CA2248421747

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993016G= , CM000679.2:g.12993016G=	GRCh38
NC_000017.10:g.12896333G= , CM000679.1:g.12896333G=	GRCh37
NC_000017.9:g.12837058G=	NCBI36
NG_015808.1:g.30049C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2283C= MANE Select	ENSP00000337445.4:p.Pro761=
ENST00000338034.8:c.2283C=	ENSP00000337445.4:p.Pro761=
ENST00000395962.6:c.2226C=	ENSP00000379291.1:p.Pro742=
ENST00000426905.7:c.2163C=	ENSP00000405223.3:p.Pro721=
ENST00000465825.5:n.2170C=
ENST00000480891.5:n.2112C=
ENST00000484122.5:n.3113C=
ENST00000487229.6:n.1829C=
ENST00000584650.5:c.1682C=
NM_001165962.1:c.2163C=	NP_001159434.1:p.Pro721=
NM_018127.6:c.2283C=	NP_060597.4:p.Pro761=
NM_173717.1:c.2280C=	NP_776065.1:p.Pro760=
XM_024450850.1:c.2442C=	XP_024306618.1:p.Pro814=
XM_024450851.1:c.2364C=	XP_024306619.1:p.Pro788=
XM_024450852.1:c.2361C=	XP_024306620.1:p.Pro787=
XM_024450853.1:c.2358C=	XP_024306621.1:p.Pro786=
XM_024450854.1:c.2322C=	XP_024306622.1:p.Pro774=
XM_024450855.1:c.2241C=	XP_024306623.1:p.Pro747=
XM_024450856.1:c.2160C=	XP_024306624.1:p.Pro720=
XM_024450857.1:c.2160C=	XP_024306625.1:p.Pro720=
XM_024450858.1:c.2079C=	XP_024306626.1:p.Pro693=
XM_024450859.1:c.2076C=	XP_024306627.1:p.Pro692=
XM_024450860.1:c.2001C=	XP_024306628.1:p.Pro667=
XM_024450861.1:c.2001C=	XP_024306629.1:p.Pro667=
XM_024450862.1:c.1998C=	XP_024306630.1:p.Pro666=
NM_018127.7:c.2283C= MANE Select	NP_060597.4:p.Pro761=
NM_001165962.2:c.2163C=	NP_001159434.1:p.Pro721=
NM_173717.2:c.2280C=	NP_776065.1:p.Pro760=