Canonical Allele Identifier: CA398222288

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896283A>T (hg19) ; chr17:g.12992966A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992966A>T , CM000679.2:g.12992966A>T	GRCh38
NC_000017.10:g.12896283A>T , CM000679.1:g.12896283A>T	GRCh37
NC_000017.9:g.12837008A>T	NCBI36
NG_015808.1:g.30099T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2333T>A MANE Select	ENSP00000337445.4:p.Met778Lys
ENST00000338034.8:c.2333T>A	ENSP00000337445.4:p.Met778Lys
ENST00000395962.6:c.2276T>A	ENSP00000379291.1:p.Met759Lys
ENST00000426905.7:c.2213T>A	ENSP00000405223.3:p.Met738Lys
ENST00000465825.5:n.2220T>A
ENST00000480891.5:n.2162T>A
ENST00000484122.5:n.3163T>A
ENST00000487229.6:n.1879T>A
ENST00000584650.5:c.1732T>A
NM_001165962.1:c.2213T>A	NP_001159434.1:p.Met738Lys
NM_018127.6:c.2333T>A	NP_060597.4:p.Met778Lys
NM_173717.1:c.2330T>A	NP_776065.1:p.Met777Lys
XM_024450850.1:c.2492T>A	XP_024306618.1:p.Met831Lys
XM_024450851.1:c.2414T>A	XP_024306619.1:p.Met805Lys
XM_024450852.1:c.2411T>A	XP_024306620.1:p.Met804Lys
XM_024450853.1:c.2408T>A	XP_024306621.1:p.Met803Lys
XM_024450854.1:c.2372T>A	XP_024306622.1:p.Met791Lys
XM_024450855.1:c.2291T>A	XP_024306623.1:p.Met764Lys
XM_024450856.1:c.2210T>A	XP_024306624.1:p.Met737Lys
XM_024450857.1:c.2210T>A	XP_024306625.1:p.Met737Lys
XM_024450858.1:c.2129T>A	XP_024306626.1:p.Met710Lys
XM_024450859.1:c.2126T>A	XP_024306627.1:p.Met709Lys
XM_024450860.1:c.2051T>A	XP_024306628.1:p.Met684Lys
XM_024450861.1:c.2051T>A	XP_024306629.1:p.Met684Lys
XM_024450862.1:c.2048T>A	XP_024306630.1:p.Met683Lys
NM_018127.7:c.2333T>A MANE Select	NP_060597.4:p.Met778Lys
NM_001165962.2:c.2213T>A	NP_001159434.1:p.Met738Lys
NM_173717.2:c.2330T>A	NP_776065.1:p.Met777Lys