Canonical Allele Identifier: CA398222192

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896232A>T (hg19) ; chr17:g.12992915A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992915A>T , CM000679.2:g.12992915A>T	GRCh38
NC_000017.10:g.12896232A>T , CM000679.1:g.12896232A>T	GRCh37
NC_000017.9:g.12836957A>T	NCBI36
NG_015808.1:g.30150T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2384T>A MANE Select	ENSP00000337445.4:p.Leu795Gln
ENST00000338034.8:c.2384T>A	ENSP00000337445.4:p.Leu795Gln
ENST00000395962.6:c.2327T>A	ENSP00000379291.1:p.Leu776Gln
ENST00000426905.7:c.2264T>A	ENSP00000405223.3:p.Leu755Gln
ENST00000465825.5:n.2271T>A
ENST00000480891.5:n.2213T>A
ENST00000484122.5:n.3214T>A
ENST00000487229.6:n.1930T>A
ENST00000584650.5:c.1783T>A
NM_001165962.1:c.2264T>A	NP_001159434.1:p.Leu755Gln
NM_018127.6:c.2384T>A	NP_060597.4:p.Leu795Gln
NM_173717.1:c.2381T>A	NP_776065.1:p.Leu794Gln
XM_024450850.1:c.2543T>A	XP_024306618.1:p.Leu848Gln
XM_024450851.1:c.2465T>A	XP_024306619.1:p.Leu822Gln
XM_024450852.1:c.2462T>A	XP_024306620.1:p.Leu821Gln
XM_024450853.1:c.2459T>A	XP_024306621.1:p.Leu820Gln
XM_024450854.1:c.2423T>A	XP_024306622.1:p.Leu808Gln
XM_024450855.1:c.2342T>A	XP_024306623.1:p.Leu781Gln
XM_024450856.1:c.2261T>A	XP_024306624.1:p.Leu754Gln
XM_024450857.1:c.2261T>A	XP_024306625.1:p.Leu754Gln
XM_024450858.1:c.2180T>A	XP_024306626.1:p.Leu727Gln
XM_024450859.1:c.2177T>A	XP_024306627.1:p.Leu726Gln
XM_024450860.1:c.2102T>A	XP_024306628.1:p.Leu701Gln
XM_024450861.1:c.2102T>A	XP_024306629.1:p.Leu701Gln
XM_024450862.1:c.2099T>A	XP_024306630.1:p.Leu700Gln
NM_018127.7:c.2384T>A MANE Select	NP_060597.4:p.Leu795Gln
NM_001165962.2:c.2264T>A	NP_001159434.1:p.Leu755Gln
NM_173717.2:c.2381T>A	NP_776065.1:p.Leu794Gln