Canonical Allele Identifier: CA398222254

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992951-T-C
• MyVariant Identifiers: chr17:g.12896268T>C (hg19) ; chr17:g.12992951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992951T>C , CM000679.2:g.12992951T>C	GRCh38
NC_000017.10:g.12896268T>C , CM000679.1:g.12896268T>C	GRCh37
NC_000017.9:g.12836993T>C	NCBI36
NG_015808.1:g.30114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2348A>G MANE Select	ENSP00000337445.4:p.Glu783Gly
ENST00000338034.8:c.2348A>G	ENSP00000337445.4:p.Glu783Gly
ENST00000395962.6:c.2291A>G	ENSP00000379291.1:p.Glu764Gly
ENST00000426905.7:c.2228A>G	ENSP00000405223.3:p.Glu743Gly
ENST00000465825.5:n.2235A>G
ENST00000480891.5:n.2177A>G
ENST00000484122.5:n.3178A>G
ENST00000487229.6:n.1894A>G
ENST00000584650.5:c.1747A>G
NM_001165962.1:c.2228A>G	NP_001159434.1:p.Glu743Gly
NM_018127.6:c.2348A>G	NP_060597.4:p.Glu783Gly
NM_173717.1:c.2345A>G	NP_776065.1:p.Glu782Gly
XM_024450850.1:c.2507A>G	XP_024306618.1:p.Glu836Gly
XM_024450851.1:c.2429A>G	XP_024306619.1:p.Glu810Gly
XM_024450852.1:c.2426A>G	XP_024306620.1:p.Glu809Gly
XM_024450853.1:c.2423A>G	XP_024306621.1:p.Glu808Gly
XM_024450854.1:c.2387A>G	XP_024306622.1:p.Glu796Gly
XM_024450855.1:c.2306A>G	XP_024306623.1:p.Glu769Gly
XM_024450856.1:c.2225A>G	XP_024306624.1:p.Glu742Gly
XM_024450857.1:c.2225A>G	XP_024306625.1:p.Glu742Gly
XM_024450858.1:c.2144A>G	XP_024306626.1:p.Glu715Gly
XM_024450859.1:c.2141A>G	XP_024306627.1:p.Glu714Gly
XM_024450860.1:c.2066A>G	XP_024306628.1:p.Glu689Gly
XM_024450861.1:c.2066A>G	XP_024306629.1:p.Glu689Gly
XM_024450862.1:c.2063A>G	XP_024306630.1:p.Glu688Gly
NM_018127.7:c.2348A>G MANE Select	NP_060597.4:p.Glu783Gly
NM_001165962.2:c.2228A>G	NP_001159434.1:p.Glu743Gly
NM_173717.2:c.2345A>G	NP_776065.1:p.Glu782Gly