Canonical Allele Identifier: CA398222028

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896152T>G (hg19) ; chr17:g.12992835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992835T>G , CM000679.2:g.12992835T>G	GRCh38
NC_000017.10:g.12896152T>G , CM000679.1:g.12896152T>G	GRCh37
NC_000017.9:g.12836877T>G	NCBI36
NG_015808.1:g.30230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2464A>C MANE Select	ENSP00000337445.4:p.Lys822Gln
ENST00000338034.8:c.2464A>C	ENSP00000337445.4:p.Lys822Gln
ENST00000395962.6:c.2407A>C	ENSP00000379291.1:p.Lys803Gln
ENST00000426905.7:c.2344A>C	ENSP00000405223.3:p.Lys782Gln
ENST00000465825.5:n.2351A>C
ENST00000480891.5:n.2293A>C
ENST00000484122.5:n.3294A>C
ENST00000487229.6:n.2010A>C
ENST00000584650.5:c.1863A>C
NM_001165962.1:c.2344A>C	NP_001159434.1:p.Lys782Gln
NM_018127.6:c.2464A>C	NP_060597.4:p.Lys822Gln
NM_173717.1:c.2461A>C	NP_776065.1:p.Lys821Gln
XM_024450850.1:c.2623A>C	XP_024306618.1:p.Lys875Gln
XM_024450851.1:c.2545A>C	XP_024306619.1:p.Lys849Gln
XM_024450852.1:c.2542A>C	XP_024306620.1:p.Lys848Gln
XM_024450853.1:c.2539A>C	XP_024306621.1:p.Lys847Gln
XM_024450854.1:c.2503A>C	XP_024306622.1:p.Lys835Gln
XM_024450855.1:c.2422A>C	XP_024306623.1:p.Lys808Gln
XM_024450856.1:c.2341A>C	XP_024306624.1:p.Lys781Gln
XM_024450857.1:c.2341A>C	XP_024306625.1:p.Lys781Gln
XM_024450858.1:c.2260A>C	XP_024306626.1:p.Lys754Gln
XM_024450859.1:c.2257A>C	XP_024306627.1:p.Lys753Gln
XM_024450860.1:c.2182A>C	XP_024306628.1:p.Lys728Gln
XM_024450861.1:c.2182A>C	XP_024306629.1:p.Lys728Gln
XM_024450862.1:c.2179A>C	XP_024306630.1:p.Lys727Gln
NM_018127.7:c.2464A>C MANE Select	NP_060597.4:p.Lys822Gln
NM_001165962.2:c.2344A>C	NP_001159434.1:p.Lys782Gln
NM_173717.2:c.2461A>C	NP_776065.1:p.Lys821Gln