Canonical Allele Identifier: CA2248421557

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992930A= , CM000679.2:g.12992930A=	GRCh38
NC_000017.10:g.12896247A= , CM000679.1:g.12896247A=	GRCh37
NC_000017.9:g.12836972A=	NCBI36
NG_015808.1:g.30135T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2369T= MANE Select	ENSP00000337445.4:p.Val790=
ENST00000338034.8:c.2369T=	ENSP00000337445.4:p.Val790=
ENST00000395962.6:c.2312T=	ENSP00000379291.1:p.Val771=
ENST00000426905.7:c.2249T=	ENSP00000405223.3:p.Val750=
ENST00000465825.5:n.2256T=
ENST00000480891.5:n.2198T=
ENST00000484122.5:n.3199T=
ENST00000487229.6:n.1915T=
ENST00000584650.5:c.1768T=
NM_001165962.1:c.2249T=	NP_001159434.1:p.Val750=
NM_018127.6:c.2369T=	NP_060597.4:p.Val790=
NM_173717.1:c.2366T=	NP_776065.1:p.Val789=
XM_024450850.1:c.2528T=	XP_024306618.1:p.Val843=
XM_024450851.1:c.2450T=	XP_024306619.1:p.Val817=
XM_024450852.1:c.2447T=	XP_024306620.1:p.Val816=
XM_024450853.1:c.2444T=	XP_024306621.1:p.Val815=
XM_024450854.1:c.2408T=	XP_024306622.1:p.Val803=
XM_024450855.1:c.2327T=	XP_024306623.1:p.Val776=
XM_024450856.1:c.2246T=	XP_024306624.1:p.Val749=
XM_024450857.1:c.2246T=	XP_024306625.1:p.Val749=
XM_024450858.1:c.2165T=	XP_024306626.1:p.Val722=
XM_024450859.1:c.2162T=	XP_024306627.1:p.Val721=
XM_024450860.1:c.2087T=	XP_024306628.1:p.Val696=
XM_024450861.1:c.2087T=	XP_024306629.1:p.Val696=
XM_024450862.1:c.2084T=	XP_024306630.1:p.Val695=
NM_018127.7:c.2369T= MANE Select	NP_060597.4:p.Val790=
NM_001165962.2:c.2249T=	NP_001159434.1:p.Val750=
NM_173717.2:c.2366T=	NP_776065.1:p.Val789=