Canonical Allele Identifier: CA398222016

Gene: ELAC2

Linked Data

• dbSNP Id: rs2143538702
• MyVariant Identifiers: chr17:g.12896146T>C (hg19) ; chr17:g.12992829T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2470A>G MANE Select	ENSP00000337445.4:p.Arg824Gly
ENST00000338034.8:c.2470A>G	ENSP00000337445.4:p.Arg824Gly
ENST00000395962.6:c.2413A>G	ENSP00000379291.1:p.Arg805Gly
ENST00000426905.7:c.2350A>G	ENSP00000405223.3:p.Arg784Gly
ENST00000465825.5:n.2357A>G
ENST00000480891.5:n.2299A>G
ENST00000484122.5:n.3300A>G
ENST00000487229.6:n.2016A>G
ENST00000584650.5:c.1869A>G
NM_001165962.1:c.2350A>G	NP_001159434.1:p.Arg784Gly
NM_018127.6:c.2470A>G	NP_060597.4:p.Arg824Gly
NM_173717.1:c.2467A>G	NP_776065.1:p.Arg823Gly
XM_024450850.1:c.2629A>G	XP_024306618.1:p.Arg877Gly
XM_024450851.1:c.2551A>G	XP_024306619.1:p.Arg851Gly
XM_024450852.1:c.2548A>G	XP_024306620.1:p.Arg850Gly
XM_024450853.1:c.2545A>G	XP_024306621.1:p.Arg849Gly
XM_024450854.1:c.2509A>G	XP_024306622.1:p.Arg837Gly
XM_024450855.1:c.2428A>G	XP_024306623.1:p.Arg810Gly
XM_024450856.1:c.2347A>G	XP_024306624.1:p.Arg783Gly
XM_024450857.1:c.2347A>G	XP_024306625.1:p.Arg783Gly
XM_024450858.1:c.2266A>G	XP_024306626.1:p.Arg756Gly
XM_024450859.1:c.2263A>G	XP_024306627.1:p.Arg755Gly
XM_024450860.1:c.2188A>G	XP_024306628.1:p.Arg730Gly
XM_024450861.1:c.2188A>G	XP_024306629.1:p.Arg730Gly
XM_024450862.1:c.2185A>G	XP_024306630.1:p.Arg729Gly
NM_018127.7:c.2470A>G MANE Select	NP_060597.4:p.Arg824Gly
NM_001165962.2:c.2350A>G	NP_001159434.1:p.Arg784Gly
NM_173717.2:c.2467A>G	NP_776065.1:p.Arg823Gly