Canonical Allele Identifier: CA398222030

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896153C>G (hg19) ; chr17:g.12992836C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992836C>G , CM000679.2:g.12992836C>G	GRCh38
NC_000017.10:g.12896153C>G , CM000679.1:g.12896153C>G	GRCh37
NC_000017.9:g.12836878C>G	NCBI36
NG_015808.1:g.30229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2463G>C MANE Select	ENSP00000337445.4:p.Lys821Asn
ENST00000338034.8:c.2463G>C	ENSP00000337445.4:p.Lys821Asn
ENST00000395962.6:c.2406G>C	ENSP00000379291.1:p.Lys802Asn
ENST00000426905.7:c.2343G>C	ENSP00000405223.3:p.Lys781Asn
ENST00000465825.5:n.2350G>C
ENST00000480891.5:n.2292G>C
ENST00000484122.5:n.3293G>C
ENST00000487229.6:n.2009G>C
ENST00000584650.5:c.1862G>C
NM_001165962.1:c.2343G>C	NP_001159434.1:p.Lys781Asn
NM_018127.6:c.2463G>C	NP_060597.4:p.Lys821Asn
NM_173717.1:c.2460G>C	NP_776065.1:p.Lys820Asn
XM_024450850.1:c.2622G>C	XP_024306618.1:p.Lys874Asn
XM_024450851.1:c.2544G>C	XP_024306619.1:p.Lys848Asn
XM_024450852.1:c.2541G>C	XP_024306620.1:p.Lys847Asn
XM_024450853.1:c.2538G>C	XP_024306621.1:p.Lys846Asn
XM_024450854.1:c.2502G>C	XP_024306622.1:p.Lys834Asn
XM_024450855.1:c.2421G>C	XP_024306623.1:p.Lys807Asn
XM_024450856.1:c.2340G>C	XP_024306624.1:p.Lys780Asn
XM_024450857.1:c.2340G>C	XP_024306625.1:p.Lys780Asn
XM_024450858.1:c.2259G>C	XP_024306626.1:p.Lys753Asn
XM_024450859.1:c.2256G>C	XP_024306627.1:p.Lys752Asn
XM_024450860.1:c.2181G>C	XP_024306628.1:p.Lys727Asn
XM_024450861.1:c.2181G>C	XP_024306629.1:p.Lys727Asn
XM_024450862.1:c.2178G>C	XP_024306630.1:p.Lys726Asn
NM_018127.7:c.2463G>C MANE Select	NP_060597.4:p.Lys821Asn
NM_001165962.2:c.2343G>C	NP_001159434.1:p.Lys781Asn
NM_173717.2:c.2460G>C	NP_776065.1:p.Lys820Asn