Canonical Allele Identifier: CA288075090

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2137102
• ClinVar RCV Id: RCV003062381
• dbSNP Id: rs971374535
• gnomAD v2: 17-12896293-T-C
• gnomAD v4: 17-12992976-T-C
• MyVariant Identifiers: chr17:g.12896293T>C (hg19) ; chr17:g.12992976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992976T>C , CM000679.2:g.12992976T>C	GRCh38
NC_000017.10:g.12896293T>C , CM000679.1:g.12896293T>C	GRCh37
NC_000017.9:g.12837018T>C	NCBI36
NG_015808.1:g.30089A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2323A>G MANE Select	ENSP00000337445.4:p.Ile775Val
ENST00000338034.8:c.2323A>G	ENSP00000337445.4:p.Ile775Val
ENST00000395962.6:c.2266A>G	ENSP00000379291.1:p.Ile756Val
ENST00000426905.7:c.2203A>G	ENSP00000405223.3:p.Ile735Val
ENST00000465825.5:n.2210A>G
ENST00000480891.5:n.2152A>G
ENST00000484122.5:n.3153A>G
ENST00000487229.6:n.1869A>G
ENST00000584650.5:c.1722A>G
NM_001165962.1:c.2203A>G	NP_001159434.1:p.Ile735Val
NM_018127.6:c.2323A>G	NP_060597.4:p.Ile775Val
NM_173717.1:c.2320A>G	NP_776065.1:p.Ile774Val
XM_024450850.1:c.2482A>G	XP_024306618.1:p.Ile828Val
XM_024450851.1:c.2404A>G	XP_024306619.1:p.Ile802Val
XM_024450852.1:c.2401A>G	XP_024306620.1:p.Ile801Val
XM_024450853.1:c.2398A>G	XP_024306621.1:p.Ile800Val
XM_024450854.1:c.2362A>G	XP_024306622.1:p.Ile788Val
XM_024450855.1:c.2281A>G	XP_024306623.1:p.Ile761Val
XM_024450856.1:c.2200A>G	XP_024306624.1:p.Ile734Val
XM_024450857.1:c.2200A>G	XP_024306625.1:p.Ile734Val
XM_024450858.1:c.2119A>G	XP_024306626.1:p.Ile707Val
XM_024450859.1:c.2116A>G	XP_024306627.1:p.Ile706Val
XM_024450860.1:c.2041A>G	XP_024306628.1:p.Ile681Val
XM_024450861.1:c.2041A>G	XP_024306629.1:p.Ile681Val
XM_024450862.1:c.2038A>G	XP_024306630.1:p.Ile680Val
NM_018127.7:c.2323A>G MANE Select	NP_060597.4:p.Ile775Val
NM_001165962.2:c.2203A>G	NP_001159434.1:p.Ile735Val
NM_173717.2:c.2320A>G	NP_776065.1:p.Ile774Val