Canonical Allele Identifier: CA398222161

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896215C>G (hg19) ; chr17:g.12992898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992898C>G , CM000679.2:g.12992898C>G	GRCh38
NC_000017.10:g.12896215C>G , CM000679.1:g.12896215C>G	GRCh37
NC_000017.9:g.12836940C>G	NCBI36
NG_015808.1:g.30167G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2401G>C MANE Select	ENSP00000337445.4:p.Gly801Arg
ENST00000338034.8:c.2401G>C	ENSP00000337445.4:p.Gly801Arg
ENST00000395962.6:c.2344G>C	ENSP00000379291.1:p.Gly782Arg
ENST00000426905.7:c.2281G>C	ENSP00000405223.3:p.Gly761Arg
ENST00000465825.5:n.2288G>C
ENST00000480891.5:n.2230G>C
ENST00000484122.5:n.3231G>C
ENST00000487229.6:n.1947G>C
ENST00000584650.5:c.1800G>C
NM_001165962.1:c.2281G>C	NP_001159434.1:p.Gly761Arg
NM_018127.6:c.2401G>C	NP_060597.4:p.Gly801Arg
NM_173717.1:c.2398G>C	NP_776065.1:p.Gly800Arg
XM_024450850.1:c.2560G>C	XP_024306618.1:p.Gly854Arg
XM_024450851.1:c.2482G>C	XP_024306619.1:p.Gly828Arg
XM_024450852.1:c.2479G>C	XP_024306620.1:p.Gly827Arg
XM_024450853.1:c.2476G>C	XP_024306621.1:p.Gly826Arg
XM_024450854.1:c.2440G>C	XP_024306622.1:p.Gly814Arg
XM_024450855.1:c.2359G>C	XP_024306623.1:p.Gly787Arg
XM_024450856.1:c.2278G>C	XP_024306624.1:p.Gly760Arg
XM_024450857.1:c.2278G>C	XP_024306625.1:p.Gly760Arg
XM_024450858.1:c.2197G>C	XP_024306626.1:p.Gly733Arg
XM_024450859.1:c.2194G>C	XP_024306627.1:p.Gly732Arg
XM_024450860.1:c.2119G>C	XP_024306628.1:p.Gly707Arg
XM_024450861.1:c.2119G>C	XP_024306629.1:p.Gly707Arg
XM_024450862.1:c.2116G>C	XP_024306630.1:p.Gly706Arg
NM_018127.7:c.2401G>C MANE Select	NP_060597.4:p.Gly801Arg
NM_001165962.2:c.2281G>C	NP_001159434.1:p.Gly761Arg
NM_173717.2:c.2398G>C	NP_776065.1:p.Gly800Arg