Canonical Allele Identifier: CA2248396447

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13005967T= , CM000679.2:g.13005967T=	GRCh38
NC_000017.10:g.12909284T= , CM000679.1:g.12909284T=	GRCh37
NC_000017.9:g.12850009T=	NCBI36
NG_015808.1:g.17098A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.751A= MANE Select	ENSP00000337445.4:p.Arg251=
ENST00000338034.8:c.751A=	ENSP00000337445.4:p.Arg251=
ENST00000395962.6:c.694A=	ENSP00000379291.1:p.Arg232=
ENST00000426905.7:c.631A=	ENSP00000405223.3:p.Arg211=
ENST00000446899.5:c.80A=
ENST00000480891.5:n.580A=
ENST00000484122.5:n.1013A=
ENST00000580504.5:c.344A=	ENSP00000463594.1:p.Glu115=
ENST00000584650.5:c.225A=
ENST00000609101.5:c.469A=	ENSP00000477044.1:p.Arg157=
ENST00000609345.1:n.548A=
NM_001165962.1:c.631A=	NP_001159434.1:p.Arg211=
NM_018127.6:c.751A=	NP_060597.4:p.Arg251=
NM_173717.1:c.751A=	NP_776065.1:p.Arg251=
XM_024450850.1:c.751A=	XP_024306618.1:p.Arg251=
XM_024450851.1:c.751A=	XP_024306619.1:p.Arg251=
XM_024450852.1:c.751A=	XP_024306620.1:p.Arg251=
XM_024450853.1:c.751A=	XP_024306621.1:p.Arg251=
XM_024450854.1:c.631A=	XP_024306622.1:p.Arg211=
XM_024450855.1:c.631A=	XP_024306623.1:p.Arg211=
XM_024450856.1:c.469A=	XP_024306624.1:p.Arg157=
XM_024450857.1:c.469A=	XP_024306625.1:p.Arg157=
XM_024450858.1:c.469A=	XP_024306626.1:p.Arg157=
XM_024450859.1:c.469A=	XP_024306627.1:p.Arg157=
XM_024450860.1:c.469A=	XP_024306628.1:p.Arg157=
XM_024450861.1:c.469A=	XP_024306629.1:p.Arg157=
XM_024450862.1:c.469A=	XP_024306630.1:p.Arg157=
NM_018127.7:c.751A= MANE Select	NP_060597.4:p.Arg251=
NM_001165962.2:c.631A=	NP_001159434.1:p.Arg211=
NM_173717.2:c.751A=	NP_776065.1:p.Arg251=