Canonical Allele Identifier: CA398222224

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896251G>C (hg19) ; chr17:g.12992934G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992934G>C , CM000679.2:g.12992934G>C	GRCh38
NC_000017.10:g.12896251G>C , CM000679.1:g.12896251G>C	GRCh37
NC_000017.9:g.12836976G>C	NCBI36
NG_015808.1:g.30131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2365C>G MANE Select	ENSP00000337445.4:p.Gln789Glu
ENST00000338034.8:c.2365C>G	ENSP00000337445.4:p.Gln789Glu
ENST00000395962.6:c.2308C>G	ENSP00000379291.1:p.Gln770Glu
ENST00000426905.7:c.2245C>G	ENSP00000405223.3:p.Gln749Glu
ENST00000465825.5:n.2252C>G
ENST00000480891.5:n.2194C>G
ENST00000484122.5:n.3195C>G
ENST00000487229.6:n.1911C>G
ENST00000584650.5:c.1764C>G
NM_001165962.1:c.2245C>G	NP_001159434.1:p.Gln749Glu
NM_018127.6:c.2365C>G	NP_060597.4:p.Gln789Glu
NM_173717.1:c.2362C>G	NP_776065.1:p.Gln788Glu
XM_024450850.1:c.2524C>G	XP_024306618.1:p.Gln842Glu
XM_024450851.1:c.2446C>G	XP_024306619.1:p.Gln816Glu
XM_024450852.1:c.2443C>G	XP_024306620.1:p.Gln815Glu
XM_024450853.1:c.2440C>G	XP_024306621.1:p.Gln814Glu
XM_024450854.1:c.2404C>G	XP_024306622.1:p.Gln802Glu
XM_024450855.1:c.2323C>G	XP_024306623.1:p.Gln775Glu
XM_024450856.1:c.2242C>G	XP_024306624.1:p.Gln748Glu
XM_024450857.1:c.2242C>G	XP_024306625.1:p.Gln748Glu
XM_024450858.1:c.2161C>G	XP_024306626.1:p.Gln721Glu
XM_024450859.1:c.2158C>G	XP_024306627.1:p.Gln720Glu
XM_024450860.1:c.2083C>G	XP_024306628.1:p.Gln695Glu
XM_024450861.1:c.2083C>G	XP_024306629.1:p.Gln695Glu
XM_024450862.1:c.2080C>G	XP_024306630.1:p.Gln694Glu
NM_018127.7:c.2365C>G MANE Select	NP_060597.4:p.Gln789Glu
NM_001165962.2:c.2245C>G	NP_001159434.1:p.Gln749Glu
NM_173717.2:c.2362C>G	NP_776065.1:p.Gln788Glu