Canonical Allele Identifier: CA398222270

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896277T>A (hg19) ; chr17:g.12992960T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992960T>A , CM000679.2:g.12992960T>A	GRCh38
NC_000017.10:g.12896277T>A , CM000679.1:g.12896277T>A	GRCh37
NC_000017.9:g.12837002T>A	NCBI36
NG_015808.1:g.30105A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2339A>T MANE Select	ENSP00000337445.4:p.Glu780Val
ENST00000338034.8:c.2339A>T	ENSP00000337445.4:p.Glu780Val
ENST00000395962.6:c.2282A>T	ENSP00000379291.1:p.Glu761Val
ENST00000426905.7:c.2219A>T	ENSP00000405223.3:p.Glu740Val
ENST00000465825.5:n.2226A>T
ENST00000480891.5:n.2168A>T
ENST00000484122.5:n.3169A>T
ENST00000487229.6:n.1885A>T
ENST00000584650.5:c.1738A>T
NM_001165962.1:c.2219A>T	NP_001159434.1:p.Glu740Val
NM_018127.6:c.2339A>T	NP_060597.4:p.Glu780Val
NM_173717.1:c.2336A>T	NP_776065.1:p.Glu779Val
XM_024450850.1:c.2498A>T	XP_024306618.1:p.Glu833Val
XM_024450851.1:c.2420A>T	XP_024306619.1:p.Glu807Val
XM_024450852.1:c.2417A>T	XP_024306620.1:p.Glu806Val
XM_024450853.1:c.2414A>T	XP_024306621.1:p.Glu805Val
XM_024450854.1:c.2378A>T	XP_024306622.1:p.Glu793Val
XM_024450855.1:c.2297A>T	XP_024306623.1:p.Glu766Val
XM_024450856.1:c.2216A>T	XP_024306624.1:p.Glu739Val
XM_024450857.1:c.2216A>T	XP_024306625.1:p.Glu739Val
XM_024450858.1:c.2135A>T	XP_024306626.1:p.Glu712Val
XM_024450859.1:c.2132A>T	XP_024306627.1:p.Glu711Val
XM_024450860.1:c.2057A>T	XP_024306628.1:p.Glu686Val
XM_024450861.1:c.2057A>T	XP_024306629.1:p.Glu686Val
XM_024450862.1:c.2054A>T	XP_024306630.1:p.Glu685Val
NM_018127.7:c.2339A>T MANE Select	NP_060597.4:p.Glu780Val
NM_001165962.2:c.2219A>T	NP_001159434.1:p.Glu740Val
NM_173717.2:c.2336A>T	NP_776065.1:p.Glu779Val