Canonical Allele Identifier: CA398222443

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993040-G-T
• MyVariant Identifiers: chr17:g.12896357G>T (hg19) ; chr17:g.12993040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993040G>T , CM000679.2:g.12993040G>T	GRCh38
NC_000017.10:g.12896357G>T , CM000679.1:g.12896357G>T	GRCh37
NC_000017.9:g.12837082G>T	NCBI36
NG_015808.1:g.30025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2259C>A MANE Select	ENSP00000337445.4:p.Cys753Ter
ENST00000338034.8:c.2259C>A	ENSP00000337445.4:p.Cys753Ter
ENST00000395962.6:c.2202C>A	ENSP00000379291.1:p.Cys734Ter
ENST00000426905.7:c.2139C>A	ENSP00000405223.3:p.Cys713Ter
ENST00000465825.5:n.2146C>A
ENST00000480891.5:n.2088C>A
ENST00000484122.5:n.3089C>A
ENST00000487229.6:n.1805C>A
ENST00000584650.5:c.1658C>A
NM_001165962.1:c.2139C>A	NP_001159434.1:p.Cys713Ter
NM_018127.6:c.2259C>A	NP_060597.4:p.Cys753Ter
NM_173717.1:c.2256C>A	NP_776065.1:p.Cys752Ter
XM_024450850.1:c.2418C>A	XP_024306618.1:p.Cys806Ter
XM_024450851.1:c.2340C>A	XP_024306619.1:p.Cys780Ter
XM_024450852.1:c.2337C>A	XP_024306620.1:p.Cys779Ter
XM_024450853.1:c.2334C>A	XP_024306621.1:p.Cys778Ter
XM_024450854.1:c.2298C>A	XP_024306622.1:p.Cys766Ter
XM_024450855.1:c.2217C>A	XP_024306623.1:p.Cys739Ter
XM_024450856.1:c.2136C>A	XP_024306624.1:p.Cys712Ter
XM_024450857.1:c.2136C>A	XP_024306625.1:p.Cys712Ter
XM_024450858.1:c.2055C>A	XP_024306626.1:p.Cys685Ter
XM_024450859.1:c.2052C>A	XP_024306627.1:p.Cys684Ter
XM_024450860.1:c.1977C>A	XP_024306628.1:p.Cys659Ter
XM_024450861.1:c.1977C>A	XP_024306629.1:p.Cys659Ter
XM_024450862.1:c.1974C>A	XP_024306630.1:p.Cys658Ter
NM_018127.7:c.2259C>A MANE Select	NP_060597.4:p.Cys753Ter
NM_001165962.2:c.2139C>A	NP_001159434.1:p.Cys713Ter
NM_173717.2:c.2256C>A	NP_776065.1:p.Cys752Ter