Canonical Allele Identifier: CA398222409

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993026-G-T
• MyVariant Identifiers: chr17:g.12896343G>T (hg19) ; chr17:g.12993026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993026G>T , CM000679.2:g.12993026G>T	GRCh38
NC_000017.10:g.12896343G>T , CM000679.1:g.12896343G>T	GRCh37
NC_000017.9:g.12837068G>T	NCBI36
NG_015808.1:g.30039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2273C>A MANE Select	ENSP00000337445.4:p.Pro758Gln
ENST00000338034.8:c.2273C>A	ENSP00000337445.4:p.Pro758Gln
ENST00000395962.6:c.2216C>A	ENSP00000379291.1:p.Pro739Gln
ENST00000426905.7:c.2153C>A	ENSP00000405223.3:p.Pro718Gln
ENST00000465825.5:n.2160C>A
ENST00000480891.5:n.2102C>A
ENST00000484122.5:n.3103C>A
ENST00000487229.6:n.1819C>A
ENST00000584650.5:c.1672C>A
NM_001165962.1:c.2153C>A	NP_001159434.1:p.Pro718Gln
NM_018127.6:c.2273C>A	NP_060597.4:p.Pro758Gln
NM_173717.1:c.2270C>A	NP_776065.1:p.Pro757Gln
XM_024450850.1:c.2432C>A	XP_024306618.1:p.Pro811Gln
XM_024450851.1:c.2354C>A	XP_024306619.1:p.Pro785Gln
XM_024450852.1:c.2351C>A	XP_024306620.1:p.Pro784Gln
XM_024450853.1:c.2348C>A	XP_024306621.1:p.Pro783Gln
XM_024450854.1:c.2312C>A	XP_024306622.1:p.Pro771Gln
XM_024450855.1:c.2231C>A	XP_024306623.1:p.Pro744Gln
XM_024450856.1:c.2150C>A	XP_024306624.1:p.Pro717Gln
XM_024450857.1:c.2150C>A	XP_024306625.1:p.Pro717Gln
XM_024450858.1:c.2069C>A	XP_024306626.1:p.Pro690Gln
XM_024450859.1:c.2066C>A	XP_024306627.1:p.Pro689Gln
XM_024450860.1:c.1991C>A	XP_024306628.1:p.Pro664Gln
XM_024450861.1:c.1991C>A	XP_024306629.1:p.Pro664Gln
XM_024450862.1:c.1988C>A	XP_024306630.1:p.Pro663Gln
NM_018127.7:c.2273C>A MANE Select	NP_060597.4:p.Pro758Gln
NM_001165962.2:c.2153C>A	NP_001159434.1:p.Pro718Gln
NM_173717.2:c.2270C>A	NP_776065.1:p.Pro757Gln