Canonical Allele Identifier: CA398222362

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2827303
• ClinVar RCV Id: RCV003741908
• gnomAD v4: 17-12993002-G-T
• MyVariant Identifiers: chr17:g.12896319G>T (hg19) ; chr17:g.12993002G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993002G>T , CM000679.2:g.12993002G>T	GRCh38
NC_000017.10:g.12896319G>T , CM000679.1:g.12896319G>T	GRCh37
NC_000017.9:g.12837044G>T	NCBI36
NG_015808.1:g.30063C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2297C>A MANE Select	ENSP00000337445.4:p.Pro766Gln
ENST00000338034.8:c.2297C>A	ENSP00000337445.4:p.Pro766Gln
ENST00000395962.6:c.2240C>A	ENSP00000379291.1:p.Pro747Gln
ENST00000426905.7:c.2177C>A	ENSP00000405223.3:p.Pro726Gln
ENST00000465825.5:n.2184C>A
ENST00000480891.5:n.2126C>A
ENST00000484122.5:n.3127C>A
ENST00000487229.6:n.1843C>A
ENST00000584650.5:c.1696C>A
NM_001165962.1:c.2177C>A	NP_001159434.1:p.Pro726Gln
NM_018127.6:c.2297C>A	NP_060597.4:p.Pro766Gln
NM_173717.1:c.2294C>A	NP_776065.1:p.Pro765Gln
XM_024450850.1:c.2456C>A	XP_024306618.1:p.Pro819Gln
XM_024450851.1:c.2378C>A	XP_024306619.1:p.Pro793Gln
XM_024450852.1:c.2375C>A	XP_024306620.1:p.Pro792Gln
XM_024450853.1:c.2372C>A	XP_024306621.1:p.Pro791Gln
XM_024450854.1:c.2336C>A	XP_024306622.1:p.Pro779Gln
XM_024450855.1:c.2255C>A	XP_024306623.1:p.Pro752Gln
XM_024450856.1:c.2174C>A	XP_024306624.1:p.Pro725Gln
XM_024450857.1:c.2174C>A	XP_024306625.1:p.Pro725Gln
XM_024450858.1:c.2093C>A	XP_024306626.1:p.Pro698Gln
XM_024450859.1:c.2090C>A	XP_024306627.1:p.Pro697Gln
XM_024450860.1:c.2015C>A	XP_024306628.1:p.Pro672Gln
XM_024450861.1:c.2015C>A	XP_024306629.1:p.Pro672Gln
XM_024450862.1:c.2012C>A	XP_024306630.1:p.Pro671Gln
NM_018127.7:c.2297C>A MANE Select	NP_060597.4:p.Pro766Gln
NM_001165962.2:c.2177C>A	NP_001159434.1:p.Pro726Gln
NM_173717.2:c.2294C>A	NP_776065.1:p.Pro765Gln