Canonical Allele Identifier: CA398222444

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993041-C-A
• MyVariant Identifiers: chr17:g.12896358C>A (hg19) ; chr17:g.12993041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993041C>A , CM000679.2:g.12993041C>A	GRCh38
NC_000017.10:g.12896358C>A , CM000679.1:g.12896358C>A	GRCh37
NC_000017.9:g.12837083C>A	NCBI36
NG_015808.1:g.30024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2258G>T MANE Select	ENSP00000337445.4:p.Cys753Phe
ENST00000338034.8:c.2258G>T	ENSP00000337445.4:p.Cys753Phe
ENST00000395962.6:c.2201G>T	ENSP00000379291.1:p.Cys734Phe
ENST00000426905.7:c.2138G>T	ENSP00000405223.3:p.Cys713Phe
ENST00000465825.5:n.2145G>T
ENST00000480891.5:n.2087G>T
ENST00000484122.5:n.3088G>T
ENST00000487229.6:n.1804G>T
ENST00000584650.5:c.1657G>T
NM_001165962.1:c.2138G>T	NP_001159434.1:p.Cys713Phe
NM_018127.6:c.2258G>T	NP_060597.4:p.Cys753Phe
NM_173717.1:c.2255G>T	NP_776065.1:p.Cys752Phe
XM_024450850.1:c.2417G>T	XP_024306618.1:p.Cys806Phe
XM_024450851.1:c.2339G>T	XP_024306619.1:p.Cys780Phe
XM_024450852.1:c.2336G>T	XP_024306620.1:p.Cys779Phe
XM_024450853.1:c.2333G>T	XP_024306621.1:p.Cys778Phe
XM_024450854.1:c.2297G>T	XP_024306622.1:p.Cys766Phe
XM_024450855.1:c.2216G>T	XP_024306623.1:p.Cys739Phe
XM_024450856.1:c.2135G>T	XP_024306624.1:p.Cys712Phe
XM_024450857.1:c.2135G>T	XP_024306625.1:p.Cys712Phe
XM_024450858.1:c.2054G>T	XP_024306626.1:p.Cys685Phe
XM_024450859.1:c.2051G>T	XP_024306627.1:p.Cys684Phe
XM_024450860.1:c.1976G>T	XP_024306628.1:p.Cys659Phe
XM_024450861.1:c.1976G>T	XP_024306629.1:p.Cys659Phe
XM_024450862.1:c.1973G>T	XP_024306630.1:p.Cys658Phe
NM_018127.7:c.2258G>T MANE Select	NP_060597.4:p.Cys753Phe
NM_001165962.2:c.2138G>T	NP_001159434.1:p.Cys713Phe
NM_173717.2:c.2255G>T	NP_776065.1:p.Cys752Phe