Canonical Allele Identifier: CA398222047

Gene: ELAC2

Linked Data

• dbSNP Id: rs1347822787
• gnomAD v2: 17-12896160-T-C
• gnomAD v4: 17-12992843-T-C
• MyVariant Identifiers: chr17:g.12896160T>C (hg19) ; chr17:g.12992843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992843T>C , CM000679.2:g.12992843T>C	GRCh38
NC_000017.10:g.12896160T>C , CM000679.1:g.12896160T>C	GRCh37
NC_000017.9:g.12836885T>C	NCBI36
NG_015808.1:g.30222A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2456A>G MANE Select	ENSP00000337445.4:p.Gln819Arg
ENST00000338034.8:c.2456A>G	ENSP00000337445.4:p.Gln819Arg
ENST00000395962.6:c.2399A>G	ENSP00000379291.1:p.Gln800Arg
ENST00000426905.7:c.2336A>G	ENSP00000405223.3:p.Gln779Arg
ENST00000465825.5:n.2343A>G
ENST00000480891.5:n.2285A>G
ENST00000484122.5:n.3286A>G
ENST00000487229.6:n.2002A>G
ENST00000584650.5:c.1855A>G
NM_001165962.1:c.2336A>G	NP_001159434.1:p.Gln779Arg
NM_018127.6:c.2456A>G	NP_060597.4:p.Gln819Arg
NM_173717.1:c.2453A>G	NP_776065.1:p.Gln818Arg
XM_024450850.1:c.2615A>G	XP_024306618.1:p.Gln872Arg
XM_024450851.1:c.2537A>G	XP_024306619.1:p.Gln846Arg
XM_024450852.1:c.2534A>G	XP_024306620.1:p.Gln845Arg
XM_024450853.1:c.2531A>G	XP_024306621.1:p.Gln844Arg
XM_024450854.1:c.2495A>G	XP_024306622.1:p.Gln832Arg
XM_024450855.1:c.2414A>G	XP_024306623.1:p.Gln805Arg
XM_024450856.1:c.2333A>G	XP_024306624.1:p.Gln778Arg
XM_024450857.1:c.2333A>G	XP_024306625.1:p.Gln778Arg
XM_024450858.1:c.2252A>G	XP_024306626.1:p.Gln751Arg
XM_024450859.1:c.2249A>G	XP_024306627.1:p.Gln750Arg
XM_024450860.1:c.2174A>G	XP_024306628.1:p.Gln725Arg
XM_024450861.1:c.2174A>G	XP_024306629.1:p.Gln725Arg
XM_024450862.1:c.2171A>G	XP_024306630.1:p.Gln724Arg
NM_018127.7:c.2456A>G MANE Select	NP_060597.4:p.Gln819Arg
NM_001165962.2:c.2336A>G	NP_001159434.1:p.Gln779Arg
NM_173717.2:c.2453A>G	NP_776065.1:p.Gln818Arg