Canonical Allele Identifier: CA398222086

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896178G>T (hg19) ; chr17:g.12992861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992861G>T , CM000679.2:g.12992861G>T	GRCh38
NC_000017.10:g.12896178G>T , CM000679.1:g.12896178G>T	GRCh37
NC_000017.9:g.12836903G>T	NCBI36
NG_015808.1:g.30204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2438C>A MANE Select	ENSP00000337445.4:p.Ala813Asp
ENST00000338034.8:c.2438C>A	ENSP00000337445.4:p.Ala813Asp
ENST00000395962.6:c.2381C>A	ENSP00000379291.1:p.Ala794Asp
ENST00000426905.7:c.2318C>A	ENSP00000405223.3:p.Ala773Asp
ENST00000465825.5:n.2325C>A
ENST00000480891.5:n.2267C>A
ENST00000484122.5:n.3268C>A
ENST00000487229.6:n.1984C>A
ENST00000584650.5:c.1837C>A
NM_001165962.1:c.2318C>A	NP_001159434.1:p.Ala773Asp
NM_018127.6:c.2438C>A	NP_060597.4:p.Ala813Asp
NM_173717.1:c.2435C>A	NP_776065.1:p.Ala812Asp
XM_024450850.1:c.2597C>A	XP_024306618.1:p.Ala866Asp
XM_024450851.1:c.2519C>A	XP_024306619.1:p.Ala840Asp
XM_024450852.1:c.2516C>A	XP_024306620.1:p.Ala839Asp
XM_024450853.1:c.2513C>A	XP_024306621.1:p.Ala838Asp
XM_024450854.1:c.2477C>A	XP_024306622.1:p.Ala826Asp
XM_024450855.1:c.2396C>A	XP_024306623.1:p.Ala799Asp
XM_024450856.1:c.2315C>A	XP_024306624.1:p.Ala772Asp
XM_024450857.1:c.2315C>A	XP_024306625.1:p.Ala772Asp
XM_024450858.1:c.2234C>A	XP_024306626.1:p.Ala745Asp
XM_024450859.1:c.2231C>A	XP_024306627.1:p.Ala744Asp
XM_024450860.1:c.2156C>A	XP_024306628.1:p.Ala719Asp
XM_024450861.1:c.2156C>A	XP_024306629.1:p.Ala719Asp
XM_024450862.1:c.2153C>A	XP_024306630.1:p.Ala718Asp
NM_018127.7:c.2438C>A MANE Select	NP_060597.4:p.Ala813Asp
NM_001165962.2:c.2318C>A	NP_001159434.1:p.Ala773Asp
NM_173717.2:c.2435C>A	NP_776065.1:p.Ala812Asp