Canonical Allele Identifier: CA398222418

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896347A>C (hg19) ; chr17:g.12993030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993030A>C , CM000679.2:g.12993030A>C	GRCh38
NC_000017.10:g.12896347A>C , CM000679.1:g.12896347A>C	GRCh37
NC_000017.9:g.12837072A>C	NCBI36
NG_015808.1:g.30035T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2269T>G MANE Select	ENSP00000337445.4:p.Phe757Val
ENST00000338034.8:c.2269T>G	ENSP00000337445.4:p.Phe757Val
ENST00000395962.6:c.2212T>G	ENSP00000379291.1:p.Phe738Val
ENST00000426905.7:c.2149T>G	ENSP00000405223.3:p.Phe717Val
ENST00000465825.5:n.2156T>G
ENST00000480891.5:n.2098T>G
ENST00000484122.5:n.3099T>G
ENST00000487229.6:n.1815T>G
ENST00000584650.5:c.1668T>G
NM_001165962.1:c.2149T>G	NP_001159434.1:p.Phe717Val
NM_018127.6:c.2269T>G	NP_060597.4:p.Phe757Val
NM_173717.1:c.2266T>G	NP_776065.1:p.Phe756Val
XM_024450850.1:c.2428T>G	XP_024306618.1:p.Phe810Val
XM_024450851.1:c.2350T>G	XP_024306619.1:p.Phe784Val
XM_024450852.1:c.2347T>G	XP_024306620.1:p.Phe783Val
XM_024450853.1:c.2344T>G	XP_024306621.1:p.Phe782Val
XM_024450854.1:c.2308T>G	XP_024306622.1:p.Phe770Val
XM_024450855.1:c.2227T>G	XP_024306623.1:p.Phe743Val
XM_024450856.1:c.2146T>G	XP_024306624.1:p.Phe716Val
XM_024450857.1:c.2146T>G	XP_024306625.1:p.Phe716Val
XM_024450858.1:c.2065T>G	XP_024306626.1:p.Phe689Val
XM_024450859.1:c.2062T>G	XP_024306627.1:p.Phe688Val
XM_024450860.1:c.1987T>G	XP_024306628.1:p.Phe663Val
XM_024450861.1:c.1987T>G	XP_024306629.1:p.Phe663Val
XM_024450862.1:c.1984T>G	XP_024306630.1:p.Phe662Val
NM_018127.7:c.2269T>G MANE Select	NP_060597.4:p.Phe757Val
NM_001165962.2:c.2149T>G	NP_001159434.1:p.Phe717Val
NM_173717.2:c.2266T>G	NP_776065.1:p.Phe756Val