Canonical Allele Identifier: CA498009555

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896146T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992829T>G , CM000679.2:g.12992829T>G	GRCh38
NC_000017.10:g.12896146T>G , CM000679.1:g.12896146T>G	GRCh37
NC_000017.9:g.12836871T>G	NCBI36
NG_015808.1:g.30236A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2470A>C MANE Select	ENSP00000337445.4:p.Arg824=
ENST00000338034.8:c.2470A>C	ENSP00000337445.4:p.Arg824=
ENST00000395962.6:c.2413A>C	ENSP00000379291.1:p.Arg805=
ENST00000426905.7:c.2350A>C	ENSP00000405223.3:p.Arg784=
ENST00000465825.5:n.2357A>C
ENST00000480891.5:n.2299A>C
ENST00000484122.5:n.3300A>C
ENST00000487229.6:n.2016A>C
ENST00000584650.5:c.1869A>C
NM_001165962.1:c.2350A>C	NP_001159434.1:p.Arg784=
NM_018127.6:c.2470A>C	NP_060597.4:p.Arg824=
NM_173717.1:c.2467A>C	NP_776065.1:p.Arg823=
XM_024450850.1:c.2629A>C	XP_024306618.1:p.Arg877=
XM_024450851.1:c.2551A>C	XP_024306619.1:p.Arg851=
XM_024450852.1:c.2548A>C	XP_024306620.1:p.Arg850=
XM_024450853.1:c.2545A>C	XP_024306621.1:p.Arg849=
XM_024450854.1:c.2509A>C	XP_024306622.1:p.Arg837=
XM_024450855.1:c.2428A>C	XP_024306623.1:p.Arg810=
XM_024450856.1:c.2347A>C	XP_024306624.1:p.Arg783=
XM_024450857.1:c.2347A>C	XP_024306625.1:p.Arg783=
XM_024450858.1:c.2266A>C	XP_024306626.1:p.Arg756=
XM_024450859.1:c.2263A>C	XP_024306627.1:p.Arg755=
XM_024450860.1:c.2188A>C	XP_024306628.1:p.Arg730=
XM_024450861.1:c.2188A>C	XP_024306629.1:p.Arg730=
XM_024450862.1:c.2185A>C	XP_024306630.1:p.Arg729=
NM_018127.7:c.2470A>C MANE Select	NP_060597.4:p.Arg824=
NM_001165962.2:c.2350A>C	NP_001159434.1:p.Arg784=
NM_173717.2:c.2467A>C	NP_776065.1:p.Arg823=