Canonical Allele Identifier: CA2248421791

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993036C= , CM000679.2:g.12993036C=	GRCh38
NC_000017.10:g.12896353C= , CM000679.1:g.12896353C=	GRCh37
NC_000017.9:g.12837078C=	NCBI36
NG_015808.1:g.30029G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2263G= MANE Select	ENSP00000337445.4:p.Gly755=
ENST00000338034.8:c.2263G=	ENSP00000337445.4:p.Gly755=
ENST00000395962.6:c.2206G=	ENSP00000379291.1:p.Gly736=
ENST00000426905.7:c.2143G=	ENSP00000405223.3:p.Gly715=
ENST00000465825.5:n.2150G=
ENST00000480891.5:n.2092G=
ENST00000484122.5:n.3093G=
ENST00000487229.6:n.1809G=
ENST00000584650.5:c.1662G=
NM_001165962.1:c.2143G=	NP_001159434.1:p.Gly715=
NM_018127.6:c.2263G=	NP_060597.4:p.Gly755=
NM_173717.1:c.2260G=	NP_776065.1:p.Gly754=
XM_024450850.1:c.2422G=	XP_024306618.1:p.Gly808=
XM_024450851.1:c.2344G=	XP_024306619.1:p.Gly782=
XM_024450852.1:c.2341G=	XP_024306620.1:p.Gly781=
XM_024450853.1:c.2338G=	XP_024306621.1:p.Gly780=
XM_024450854.1:c.2302G=	XP_024306622.1:p.Gly768=
XM_024450855.1:c.2221G=	XP_024306623.1:p.Gly741=
XM_024450856.1:c.2140G=	XP_024306624.1:p.Gly714=
XM_024450857.1:c.2140G=	XP_024306625.1:p.Gly714=
XM_024450858.1:c.2059G=	XP_024306626.1:p.Gly687=
XM_024450859.1:c.2056G=	XP_024306627.1:p.Gly686=
XM_024450860.1:c.1981G=	XP_024306628.1:p.Gly661=
XM_024450861.1:c.1981G=	XP_024306629.1:p.Gly661=
XM_024450862.1:c.1978G=	XP_024306630.1:p.Gly660=
NM_018127.7:c.2263G= MANE Select	NP_060597.4:p.Gly755=
NM_001165962.2:c.2143G=	NP_001159434.1:p.Gly715=
NM_173717.2:c.2260G=	NP_776065.1:p.Gly754=