Canonical Allele Identifier: CA398222053

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992847-G-A
• MyVariant Identifiers: chr17:g.12896164G>A (hg19) ; chr17:g.12992847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992847G>A , CM000679.2:g.12992847G>A	GRCh38
NC_000017.10:g.12896164G>A , CM000679.1:g.12896164G>A	GRCh37
NC_000017.9:g.12836889G>A	NCBI36
NG_015808.1:g.30218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2452C>T MANE Select	ENSP00000337445.4:p.Pro818Ser
ENST00000338034.8:c.2452C>T	ENSP00000337445.4:p.Pro818Ser
ENST00000395962.6:c.2395C>T	ENSP00000379291.1:p.Pro799Ser
ENST00000426905.7:c.2332C>T	ENSP00000405223.3:p.Pro778Ser
ENST00000465825.5:n.2339C>T
ENST00000480891.5:n.2281C>T
ENST00000484122.5:n.3282C>T
ENST00000487229.6:n.1998C>T
ENST00000584650.5:c.1851C>T
NM_001165962.1:c.2332C>T	NP_001159434.1:p.Pro778Ser
NM_018127.6:c.2452C>T	NP_060597.4:p.Pro818Ser
NM_173717.1:c.2449C>T	NP_776065.1:p.Pro817Ser
XM_024450850.1:c.2611C>T	XP_024306618.1:p.Pro871Ser
XM_024450851.1:c.2533C>T	XP_024306619.1:p.Pro845Ser
XM_024450852.1:c.2530C>T	XP_024306620.1:p.Pro844Ser
XM_024450853.1:c.2527C>T	XP_024306621.1:p.Pro843Ser
XM_024450854.1:c.2491C>T	XP_024306622.1:p.Pro831Ser
XM_024450855.1:c.2410C>T	XP_024306623.1:p.Pro804Ser
XM_024450856.1:c.2329C>T	XP_024306624.1:p.Pro777Ser
XM_024450857.1:c.2329C>T	XP_024306625.1:p.Pro777Ser
XM_024450858.1:c.2248C>T	XP_024306626.1:p.Pro750Ser
XM_024450859.1:c.2245C>T	XP_024306627.1:p.Pro749Ser
XM_024450860.1:c.2170C>T	XP_024306628.1:p.Pro724Ser
XM_024450861.1:c.2170C>T	XP_024306629.1:p.Pro724Ser
XM_024450862.1:c.2167C>T	XP_024306630.1:p.Pro723Ser
NM_018127.7:c.2452C>T MANE Select	NP_060597.4:p.Pro818Ser
NM_001165962.2:c.2332C>T	NP_001159434.1:p.Pro778Ser
NM_173717.2:c.2449C>T	NP_776065.1:p.Pro817Ser