Canonical Allele Identifier: CA398222068

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896170C>A (hg19) ; chr17:g.12992853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992853C>A , CM000679.2:g.12992853C>A	GRCh38
NC_000017.10:g.12896170C>A , CM000679.1:g.12896170C>A	GRCh37
NC_000017.9:g.12836895C>A	NCBI36
NG_015808.1:g.30212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2446G>T MANE Select	ENSP00000337445.4:p.Glu816Ter
ENST00000338034.8:c.2446G>T	ENSP00000337445.4:p.Glu816Ter
ENST00000395962.6:c.2389G>T	ENSP00000379291.1:p.Glu797Ter
ENST00000426905.7:c.2326G>T	ENSP00000405223.3:p.Glu776Ter
ENST00000465825.5:n.2333G>T
ENST00000480891.5:n.2275G>T
ENST00000484122.5:n.3276G>T
ENST00000487229.6:n.1992G>T
ENST00000584650.5:c.1845G>T
NM_001165962.1:c.2326G>T	NP_001159434.1:p.Glu776Ter
NM_018127.6:c.2446G>T	NP_060597.4:p.Glu816Ter
NM_173717.1:c.2443G>T	NP_776065.1:p.Glu815Ter
XM_024450850.1:c.2605G>T	XP_024306618.1:p.Glu869Ter
XM_024450851.1:c.2527G>T	XP_024306619.1:p.Glu843Ter
XM_024450852.1:c.2524G>T	XP_024306620.1:p.Glu842Ter
XM_024450853.1:c.2521G>T	XP_024306621.1:p.Glu841Ter
XM_024450854.1:c.2485G>T	XP_024306622.1:p.Glu829Ter
XM_024450855.1:c.2404G>T	XP_024306623.1:p.Glu802Ter
XM_024450856.1:c.2323G>T	XP_024306624.1:p.Glu775Ter
XM_024450857.1:c.2323G>T	XP_024306625.1:p.Glu775Ter
XM_024450858.1:c.2242G>T	XP_024306626.1:p.Glu748Ter
XM_024450859.1:c.2239G>T	XP_024306627.1:p.Glu747Ter
XM_024450860.1:c.2164G>T	XP_024306628.1:p.Glu722Ter
XM_024450861.1:c.2164G>T	XP_024306629.1:p.Glu722Ter
XM_024450862.1:c.2161G>T	XP_024306630.1:p.Glu721Ter
NM_018127.7:c.2446G>T MANE Select	NP_060597.4:p.Glu816Ter
NM_001165962.2:c.2326G>T	NP_001159434.1:p.Glu776Ter
NM_173717.2:c.2443G>T	NP_776065.1:p.Glu815Ter