Canonical Allele Identifier: CA398222132

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896201A>C (hg19) ; chr17:g.12992884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992884A>C , CM000679.2:g.12992884A>C	GRCh38
NC_000017.10:g.12896201A>C , CM000679.1:g.12896201A>C	GRCh37
NC_000017.9:g.12836926A>C	NCBI36
NG_015808.1:g.30181T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2415T>G MANE Select	ENSP00000337445.4:p.Asp805Glu
ENST00000338034.8:c.2415T>G	ENSP00000337445.4:p.Asp805Glu
ENST00000395962.6:c.2358T>G	ENSP00000379291.1:p.Asp786Glu
ENST00000426905.7:c.2295T>G	ENSP00000405223.3:p.Asp765Glu
ENST00000465825.5:n.2302T>G
ENST00000480891.5:n.2244T>G
ENST00000484122.5:n.3245T>G
ENST00000487229.6:n.1961T>G
ENST00000584650.5:c.1814T>G
NM_001165962.1:c.2295T>G	NP_001159434.1:p.Asp765Glu
NM_018127.6:c.2415T>G	NP_060597.4:p.Asp805Glu
NM_173717.1:c.2412T>G	NP_776065.1:p.Asp804Glu
XM_024450850.1:c.2574T>G	XP_024306618.1:p.Asp858Glu
XM_024450851.1:c.2496T>G	XP_024306619.1:p.Asp832Glu
XM_024450852.1:c.2493T>G	XP_024306620.1:p.Asp831Glu
XM_024450853.1:c.2490T>G	XP_024306621.1:p.Asp830Glu
XM_024450854.1:c.2454T>G	XP_024306622.1:p.Asp818Glu
XM_024450855.1:c.2373T>G	XP_024306623.1:p.Asp791Glu
XM_024450856.1:c.2292T>G	XP_024306624.1:p.Asp764Glu
XM_024450857.1:c.2292T>G	XP_024306625.1:p.Asp764Glu
XM_024450858.1:c.2211T>G	XP_024306626.1:p.Asp737Glu
XM_024450859.1:c.2208T>G	XP_024306627.1:p.Asp736Glu
XM_024450860.1:c.2133T>G	XP_024306628.1:p.Asp711Glu
XM_024450861.1:c.2133T>G	XP_024306629.1:p.Asp711Glu
XM_024450862.1:c.2130T>G	XP_024306630.1:p.Asp710Glu
NM_018127.7:c.2415T>G MANE Select	NP_060597.4:p.Asp805Glu
NM_001165962.2:c.2295T>G	NP_001159434.1:p.Asp765Glu
NM_173717.2:c.2412T>G	NP_776065.1:p.Asp804Glu