Canonical Allele Identifier: CA288074996

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1909921
• ClinVar RCV Id: RCV002600549
• dbSNP Id: rs888296975
• gnomAD v4: 17-12992909-C-T
• MyVariant Identifiers: chr17:g.12896226C>T (hg19) ; chr17:g.12992909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992909C>T , CM000679.2:g.12992909C>T	GRCh38
NC_000017.10:g.12896226C>T , CM000679.1:g.12896226C>T	GRCh37
NC_000017.9:g.12836951C>T	NCBI36
NG_015808.1:g.30156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2390G>A MANE Select	ENSP00000337445.4:p.Arg797Lys
ENST00000338034.8:c.2390G>A	ENSP00000337445.4:p.Arg797Lys
ENST00000395962.6:c.2333G>A	ENSP00000379291.1:p.Arg778Lys
ENST00000426905.7:c.2270G>A	ENSP00000405223.3:p.Arg757Lys
ENST00000465825.5:n.2277G>A
ENST00000480891.5:n.2219G>A
ENST00000484122.5:n.3220G>A
ENST00000487229.6:n.1936G>A
ENST00000584650.5:c.1789G>A
NM_001165962.1:c.2270G>A	NP_001159434.1:p.Arg757Lys
NM_018127.6:c.2390G>A	NP_060597.4:p.Arg797Lys
NM_173717.1:c.2387G>A	NP_776065.1:p.Arg796Lys
XM_024450850.1:c.2549G>A	XP_024306618.1:p.Arg850Lys
XM_024450851.1:c.2471G>A	XP_024306619.1:p.Arg824Lys
XM_024450852.1:c.2468G>A	XP_024306620.1:p.Arg823Lys
XM_024450853.1:c.2465G>A	XP_024306621.1:p.Arg822Lys
XM_024450854.1:c.2429G>A	XP_024306622.1:p.Arg810Lys
XM_024450855.1:c.2348G>A	XP_024306623.1:p.Arg783Lys
XM_024450856.1:c.2267G>A	XP_024306624.1:p.Arg756Lys
XM_024450857.1:c.2267G>A	XP_024306625.1:p.Arg756Lys
XM_024450858.1:c.2186G>A	XP_024306626.1:p.Arg729Lys
XM_024450859.1:c.2183G>A	XP_024306627.1:p.Arg728Lys
XM_024450860.1:c.2108G>A	XP_024306628.1:p.Arg703Lys
XM_024450861.1:c.2108G>A	XP_024306629.1:p.Arg703Lys
XM_024450862.1:c.2105G>A	XP_024306630.1:p.Arg702Lys
NM_018127.7:c.2390G>A MANE Select	NP_060597.4:p.Arg797Lys
NM_001165962.2:c.2270G>A	NP_001159434.1:p.Arg757Lys
NM_173717.2:c.2387G>A	NP_776065.1:p.Arg796Lys