Canonical Allele Identifier: CA398222024

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896151T>C (hg19) ; chr17:g.12992834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992834T>C , CM000679.2:g.12992834T>C	GRCh38
NC_000017.10:g.12896151T>C , CM000679.1:g.12896151T>C	GRCh37
NC_000017.9:g.12836876T>C	NCBI36
NG_015808.1:g.30231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2465A>G MANE Select	ENSP00000337445.4:p.Lys822Arg
ENST00000338034.8:c.2465A>G	ENSP00000337445.4:p.Lys822Arg
ENST00000395962.6:c.2408A>G	ENSP00000379291.1:p.Lys803Arg
ENST00000426905.7:c.2345A>G	ENSP00000405223.3:p.Lys782Arg
ENST00000465825.5:n.2352A>G
ENST00000480891.5:n.2294A>G
ENST00000484122.5:n.3295A>G
ENST00000487229.6:n.2011A>G
ENST00000584650.5:c.1864A>G
NM_001165962.1:c.2345A>G	NP_001159434.1:p.Lys782Arg
NM_018127.6:c.2465A>G	NP_060597.4:p.Lys822Arg
NM_173717.1:c.2462A>G	NP_776065.1:p.Lys821Arg
XM_024450850.1:c.2624A>G	XP_024306618.1:p.Lys875Arg
XM_024450851.1:c.2546A>G	XP_024306619.1:p.Lys849Arg
XM_024450852.1:c.2543A>G	XP_024306620.1:p.Lys848Arg
XM_024450853.1:c.2540A>G	XP_024306621.1:p.Lys847Arg
XM_024450854.1:c.2504A>G	XP_024306622.1:p.Lys835Arg
XM_024450855.1:c.2423A>G	XP_024306623.1:p.Lys808Arg
XM_024450856.1:c.2342A>G	XP_024306624.1:p.Lys781Arg
XM_024450857.1:c.2342A>G	XP_024306625.1:p.Lys781Arg
XM_024450858.1:c.2261A>G	XP_024306626.1:p.Lys754Arg
XM_024450859.1:c.2258A>G	XP_024306627.1:p.Lys753Arg
XM_024450860.1:c.2183A>G	XP_024306628.1:p.Lys728Arg
XM_024450861.1:c.2183A>G	XP_024306629.1:p.Lys728Arg
XM_024450862.1:c.2180A>G	XP_024306630.1:p.Lys727Arg
NM_018127.7:c.2465A>G MANE Select	NP_060597.4:p.Lys822Arg
NM_001165962.2:c.2345A>G	NP_001159434.1:p.Lys782Arg
NM_173717.2:c.2462A>G	NP_776065.1:p.Lys821Arg