Canonical Allele Identifier: CA2248421394

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992870T= , CM000679.2:g.12992870T=	GRCh38
NC_000017.10:g.12896187T= , CM000679.1:g.12896187T=	GRCh37
NC_000017.9:g.12836912T=	NCBI36
NG_015808.1:g.30195A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2429A= MANE Select	ENSP00000337445.4:p.Gln810=
ENST00000338034.8:c.2429A=	ENSP00000337445.4:p.Gln810=
ENST00000395962.6:c.2372A=	ENSP00000379291.1:p.Gln791=
ENST00000426905.7:c.2309A=	ENSP00000405223.3:p.Gln770=
ENST00000465825.5:n.2316A=
ENST00000480891.5:n.2258A=
ENST00000484122.5:n.3259A=
ENST00000487229.6:n.1975A=
ENST00000584650.5:c.1828A=
NM_001165962.1:c.2309A=	NP_001159434.1:p.Gln770=
NM_018127.6:c.2429A=	NP_060597.4:p.Gln810=
NM_173717.1:c.2426A=	NP_776065.1:p.Gln809=
XM_024450850.1:c.2588A=	XP_024306618.1:p.Gln863=
XM_024450851.1:c.2510A=	XP_024306619.1:p.Gln837=
XM_024450852.1:c.2507A=	XP_024306620.1:p.Gln836=
XM_024450853.1:c.2504A=	XP_024306621.1:p.Gln835=
XM_024450854.1:c.2468A=	XP_024306622.1:p.Gln823=
XM_024450855.1:c.2387A=	XP_024306623.1:p.Gln796=
XM_024450856.1:c.2306A=	XP_024306624.1:p.Gln769=
XM_024450857.1:c.2306A=	XP_024306625.1:p.Gln769=
XM_024450858.1:c.2225A=	XP_024306626.1:p.Gln742=
XM_024450859.1:c.2222A=	XP_024306627.1:p.Gln741=
XM_024450860.1:c.2147A=	XP_024306628.1:p.Gln716=
XM_024450861.1:c.2147A=	XP_024306629.1:p.Gln716=
XM_024450862.1:c.2144A=	XP_024306630.1:p.Gln715=
NM_018127.7:c.2429A= MANE Select	NP_060597.4:p.Gln810=
NM_001165962.2:c.2309A=	NP_001159434.1:p.Gln770=
NM_173717.2:c.2426A=	NP_776065.1:p.Gln809=