Canonical Allele Identifier: CA398222429

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993035-C-T
• MyVariant Identifiers: chr17:g.12896352C>T (hg19) ; chr17:g.12993035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993035C>T , CM000679.2:g.12993035C>T	GRCh38
NC_000017.10:g.12896352C>T , CM000679.1:g.12896352C>T	GRCh37
NC_000017.9:g.12837077C>T	NCBI36
NG_015808.1:g.30030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2264G>A MANE Select	ENSP00000337445.4:p.Gly755Glu
ENST00000338034.8:c.2264G>A	ENSP00000337445.4:p.Gly755Glu
ENST00000395962.6:c.2207G>A	ENSP00000379291.1:p.Gly736Glu
ENST00000426905.7:c.2144G>A	ENSP00000405223.3:p.Gly715Glu
ENST00000465825.5:n.2151G>A
ENST00000480891.5:n.2093G>A
ENST00000484122.5:n.3094G>A
ENST00000487229.6:n.1810G>A
ENST00000584650.5:c.1663G>A
NM_001165962.1:c.2144G>A	NP_001159434.1:p.Gly715Glu
NM_018127.6:c.2264G>A	NP_060597.4:p.Gly755Glu
NM_173717.1:c.2261G>A	NP_776065.1:p.Gly754Glu
XM_024450850.1:c.2423G>A	XP_024306618.1:p.Gly808Glu
XM_024450851.1:c.2345G>A	XP_024306619.1:p.Gly782Glu
XM_024450852.1:c.2342G>A	XP_024306620.1:p.Gly781Glu
XM_024450853.1:c.2339G>A	XP_024306621.1:p.Gly780Glu
XM_024450854.1:c.2303G>A	XP_024306622.1:p.Gly768Glu
XM_024450855.1:c.2222G>A	XP_024306623.1:p.Gly741Glu
XM_024450856.1:c.2141G>A	XP_024306624.1:p.Gly714Glu
XM_024450857.1:c.2141G>A	XP_024306625.1:p.Gly714Glu
XM_024450858.1:c.2060G>A	XP_024306626.1:p.Gly687Glu
XM_024450859.1:c.2057G>A	XP_024306627.1:p.Gly686Glu
XM_024450860.1:c.1982G>A	XP_024306628.1:p.Gly661Glu
XM_024450861.1:c.1982G>A	XP_024306629.1:p.Gly661Glu
XM_024450862.1:c.1979G>A	XP_024306630.1:p.Gly660Glu
NM_018127.7:c.2264G>A MANE Select	NP_060597.4:p.Gly755Glu
NM_001165962.2:c.2144G>A	NP_001159434.1:p.Gly715Glu
NM_173717.2:c.2261G>A	NP_776065.1:p.Gly754Glu