Canonical Allele Identifier: CA398222147

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896208A>C (hg19) ; chr17:g.12992891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992891A>C , CM000679.2:g.12992891A>C	GRCh38
NC_000017.10:g.12896208A>C , CM000679.1:g.12896208A>C	GRCh37
NC_000017.9:g.12836933A>C	NCBI36
NG_015808.1:g.30174T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2408T>G MANE Select	ENSP00000337445.4:p.Leu803Arg
ENST00000338034.8:c.2408T>G	ENSP00000337445.4:p.Leu803Arg
ENST00000395962.6:c.2351T>G	ENSP00000379291.1:p.Leu784Arg
ENST00000426905.7:c.2288T>G	ENSP00000405223.3:p.Leu763Arg
ENST00000465825.5:n.2295T>G
ENST00000480891.5:n.2237T>G
ENST00000484122.5:n.3238T>G
ENST00000487229.6:n.1954T>G
ENST00000584650.5:c.1807T>G
NM_001165962.1:c.2288T>G	NP_001159434.1:p.Leu763Arg
NM_018127.6:c.2408T>G	NP_060597.4:p.Leu803Arg
NM_173717.1:c.2405T>G	NP_776065.1:p.Leu802Arg
XM_024450850.1:c.2567T>G	XP_024306618.1:p.Leu856Arg
XM_024450851.1:c.2489T>G	XP_024306619.1:p.Leu830Arg
XM_024450852.1:c.2486T>G	XP_024306620.1:p.Leu829Arg
XM_024450853.1:c.2483T>G	XP_024306621.1:p.Leu828Arg
XM_024450854.1:c.2447T>G	XP_024306622.1:p.Leu816Arg
XM_024450855.1:c.2366T>G	XP_024306623.1:p.Leu789Arg
XM_024450856.1:c.2285T>G	XP_024306624.1:p.Leu762Arg
XM_024450857.1:c.2285T>G	XP_024306625.1:p.Leu762Arg
XM_024450858.1:c.2204T>G	XP_024306626.1:p.Leu735Arg
XM_024450859.1:c.2201T>G	XP_024306627.1:p.Leu734Arg
XM_024450860.1:c.2126T>G	XP_024306628.1:p.Leu709Arg
XM_024450861.1:c.2126T>G	XP_024306629.1:p.Leu709Arg
XM_024450862.1:c.2123T>G	XP_024306630.1:p.Leu708Arg
NM_018127.7:c.2408T>G MANE Select	NP_060597.4:p.Leu803Arg
NM_001165962.2:c.2288T>G	NP_001159434.1:p.Leu763Arg
NM_173717.2:c.2405T>G	NP_776065.1:p.Leu802Arg