Canonical Allele Identifier: CA2248421711

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992990A= , CM000679.2:g.12992990A=	GRCh38
NC_000017.10:g.12896307A= , CM000679.1:g.12896307A=	GRCh37
NC_000017.9:g.12837032A=	NCBI36
NG_015808.1:g.30075T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2309T= MANE Select	ENSP00000337445.4:p.Leu770=
ENST00000338034.8:c.2309T=	ENSP00000337445.4:p.Leu770=
ENST00000395962.6:c.2252T=	ENSP00000379291.1:p.Leu751=
ENST00000426905.7:c.2189T=	ENSP00000405223.3:p.Leu730=
ENST00000465825.5:n.2196T=
ENST00000480891.5:n.2138T=
ENST00000484122.5:n.3139T=
ENST00000487229.6:n.1855T=
ENST00000584650.5:c.1708T=
NM_001165962.1:c.2189T=	NP_001159434.1:p.Leu730=
NM_018127.6:c.2309T=	NP_060597.4:p.Leu770=
NM_173717.1:c.2306T=	NP_776065.1:p.Leu769=
XM_024450850.1:c.2468T=	XP_024306618.1:p.Leu823=
XM_024450851.1:c.2390T=	XP_024306619.1:p.Leu797=
XM_024450852.1:c.2387T=	XP_024306620.1:p.Leu796=
XM_024450853.1:c.2384T=	XP_024306621.1:p.Leu795=
XM_024450854.1:c.2348T=	XP_024306622.1:p.Leu783=
XM_024450855.1:c.2267T=	XP_024306623.1:p.Leu756=
XM_024450856.1:c.2186T=	XP_024306624.1:p.Leu729=
XM_024450857.1:c.2186T=	XP_024306625.1:p.Leu729=
XM_024450858.1:c.2105T=	XP_024306626.1:p.Leu702=
XM_024450859.1:c.2102T=	XP_024306627.1:p.Leu701=
XM_024450860.1:c.2027T=	XP_024306628.1:p.Leu676=
XM_024450861.1:c.2027T=	XP_024306629.1:p.Leu676=
XM_024450862.1:c.2024T=	XP_024306630.1:p.Leu675=
NM_018127.7:c.2309T= MANE Select	NP_060597.4:p.Leu770=
NM_001165962.2:c.2189T=	NP_001159434.1:p.Leu730=
NM_173717.2:c.2306T=	NP_776065.1:p.Leu769=