Canonical Allele Identifier: CA398222191

Gene: ELAC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2384T>G MANE Select	ENSP00000337445.4:p.Leu795Arg
ENST00000338034.8:c.2384T>G	ENSP00000337445.4:p.Leu795Arg
ENST00000395962.6:c.2327T>G	ENSP00000379291.1:p.Leu776Arg
ENST00000426905.7:c.2264T>G	ENSP00000405223.3:p.Leu755Arg
ENST00000465825.5:n.2271T>G
ENST00000480891.5:n.2213T>G
ENST00000484122.5:n.3214T>G
ENST00000487229.6:n.1930T>G
ENST00000584650.5:c.1783T>G
NM_001165962.1:c.2264T>G	NP_001159434.1:p.Leu755Arg
NM_018127.6:c.2384T>G	NP_060597.4:p.Leu795Arg
NM_173717.1:c.2381T>G	NP_776065.1:p.Leu794Arg
XM_024450850.1:c.2543T>G	XP_024306618.1:p.Leu848Arg
XM_024450851.1:c.2465T>G	XP_024306619.1:p.Leu822Arg
XM_024450852.1:c.2462T>G	XP_024306620.1:p.Leu821Arg
XM_024450853.1:c.2459T>G	XP_024306621.1:p.Leu820Arg
XM_024450854.1:c.2423T>G	XP_024306622.1:p.Leu808Arg
XM_024450855.1:c.2342T>G	XP_024306623.1:p.Leu781Arg
XM_024450856.1:c.2261T>G	XP_024306624.1:p.Leu754Arg
XM_024450857.1:c.2261T>G	XP_024306625.1:p.Leu754Arg
XM_024450858.1:c.2180T>G	XP_024306626.1:p.Leu727Arg
XM_024450859.1:c.2177T>G	XP_024306627.1:p.Leu726Arg
XM_024450860.1:c.2102T>G	XP_024306628.1:p.Leu701Arg
XM_024450861.1:c.2102T>G	XP_024306629.1:p.Leu701Arg
XM_024450862.1:c.2099T>G	XP_024306630.1:p.Leu700Arg
NM_018127.7:c.2384T>G MANE Select	NP_060597.4:p.Leu795Arg
NM_001165962.2:c.2264T>G	NP_001159434.1:p.Leu755Arg
NM_173717.2:c.2381T>G	NP_776065.1:p.Leu794Arg