Canonical Allele Identifier: CA398222349

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896312T>G (hg19) ; chr17:g.12992995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992995T>G , CM000679.2:g.12992995T>G	GRCh38
NC_000017.10:g.12896312T>G , CM000679.1:g.12896312T>G	GRCh37
NC_000017.9:g.12837037T>G	NCBI36
NG_015808.1:g.30070A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2304A>C MANE Select	ENSP00000337445.4:p.Lys768Asn
ENST00000338034.8:c.2304A>C	ENSP00000337445.4:p.Lys768Asn
ENST00000395962.6:c.2247A>C	ENSP00000379291.1:p.Lys749Asn
ENST00000426905.7:c.2184A>C	ENSP00000405223.3:p.Lys728Asn
ENST00000465825.5:n.2191A>C
ENST00000480891.5:n.2133A>C
ENST00000484122.5:n.3134A>C
ENST00000487229.6:n.1850A>C
ENST00000584650.5:c.1703A>C
NM_001165962.1:c.2184A>C	NP_001159434.1:p.Lys728Asn
NM_018127.6:c.2304A>C	NP_060597.4:p.Lys768Asn
NM_173717.1:c.2301A>C	NP_776065.1:p.Lys767Asn
XM_024450850.1:c.2463A>C	XP_024306618.1:p.Lys821Asn
XM_024450851.1:c.2385A>C	XP_024306619.1:p.Lys795Asn
XM_024450852.1:c.2382A>C	XP_024306620.1:p.Lys794Asn
XM_024450853.1:c.2379A>C	XP_024306621.1:p.Lys793Asn
XM_024450854.1:c.2343A>C	XP_024306622.1:p.Lys781Asn
XM_024450855.1:c.2262A>C	XP_024306623.1:p.Lys754Asn
XM_024450856.1:c.2181A>C	XP_024306624.1:p.Lys727Asn
XM_024450857.1:c.2181A>C	XP_024306625.1:p.Lys727Asn
XM_024450858.1:c.2100A>C	XP_024306626.1:p.Lys700Asn
XM_024450859.1:c.2097A>C	XP_024306627.1:p.Lys699Asn
XM_024450860.1:c.2022A>C	XP_024306628.1:p.Lys674Asn
XM_024450861.1:c.2022A>C	XP_024306629.1:p.Lys674Asn
XM_024450862.1:c.2019A>C	XP_024306630.1:p.Lys673Asn
NM_018127.7:c.2304A>C MANE Select	NP_060597.4:p.Lys768Asn
NM_001165962.2:c.2184A>C	NP_001159434.1:p.Lys728Asn
NM_173717.2:c.2301A>C	NP_776065.1:p.Lys767Asn