Canonical Allele Identifier: CA398222384

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896330C>G (hg19) ; chr17:g.12993013C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993013C>G , CM000679.2:g.12993013C>G	GRCh38
NC_000017.10:g.12896330C>G , CM000679.1:g.12896330C>G	GRCh37
NC_000017.9:g.12837055C>G	NCBI36
NG_015808.1:g.30052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2286G>C MANE Select	ENSP00000337445.4:p.Lys762Asn
ENST00000338034.8:c.2286G>C	ENSP00000337445.4:p.Lys762Asn
ENST00000395962.6:c.2229G>C	ENSP00000379291.1:p.Lys743Asn
ENST00000426905.7:c.2166G>C	ENSP00000405223.3:p.Lys722Asn
ENST00000465825.5:n.2173G>C
ENST00000480891.5:n.2115G>C
ENST00000484122.5:n.3116G>C
ENST00000487229.6:n.1832G>C
ENST00000584650.5:c.1685G>C
NM_001165962.1:c.2166G>C	NP_001159434.1:p.Lys722Asn
NM_018127.6:c.2286G>C	NP_060597.4:p.Lys762Asn
NM_173717.1:c.2283G>C	NP_776065.1:p.Lys761Asn
XM_024450850.1:c.2445G>C	XP_024306618.1:p.Lys815Asn
XM_024450851.1:c.2367G>C	XP_024306619.1:p.Lys789Asn
XM_024450852.1:c.2364G>C	XP_024306620.1:p.Lys788Asn
XM_024450853.1:c.2361G>C	XP_024306621.1:p.Lys787Asn
XM_024450854.1:c.2325G>C	XP_024306622.1:p.Lys775Asn
XM_024450855.1:c.2244G>C	XP_024306623.1:p.Lys748Asn
XM_024450856.1:c.2163G>C	XP_024306624.1:p.Lys721Asn
XM_024450857.1:c.2163G>C	XP_024306625.1:p.Lys721Asn
XM_024450858.1:c.2082G>C	XP_024306626.1:p.Lys694Asn
XM_024450859.1:c.2079G>C	XP_024306627.1:p.Lys693Asn
XM_024450860.1:c.2004G>C	XP_024306628.1:p.Lys668Asn
XM_024450861.1:c.2004G>C	XP_024306629.1:p.Lys668Asn
XM_024450862.1:c.2001G>C	XP_024306630.1:p.Lys667Asn
NM_018127.7:c.2286G>C MANE Select	NP_060597.4:p.Lys762Asn
NM_001165962.2:c.2166G>C	NP_001159434.1:p.Lys722Asn
NM_173717.2:c.2283G>C	NP_776065.1:p.Lys761Asn