Canonical Allele Identifier: CA8400816

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1137959
• ClinVar RCV Id: RCV001474124
• dbSNP Id: rs143840985
• ExAC: 17:12896246 C / T
• gnomAD v2: 17-12896246-C-T
• gnomAD v3: 17-12992929-C-T
• gnomAD v4: 17-12992929-C-T
• MyVariant Identifiers: chr17:g.12896246C>T (hg19) ; chr17:g.12992929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992929C>T , CM000679.2:g.12992929C>T	GRCh38
NC_000017.10:g.12896246C>T , CM000679.1:g.12896246C>T	GRCh37
NC_000017.9:g.12836971C>T	NCBI36
NG_015808.1:g.30136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2370G>A MANE Select	ENSP00000337445.4:p.Val790=
ENST00000338034.8:c.2370G>A	ENSP00000337445.4:p.Val790=
ENST00000395962.6:c.2313G>A	ENSP00000379291.1:p.Val771=
ENST00000426905.7:c.2250G>A	ENSP00000405223.3:p.Val750=
ENST00000465825.5:n.2257G>A
ENST00000480891.5:n.2199G>A
ENST00000484122.5:n.3200G>A
ENST00000487229.6:n.1916G>A
ENST00000584650.5:c.1769G>A
NM_001165962.1:c.2250G>A	NP_001159434.1:p.Val750=
NM_018127.6:c.2370G>A	NP_060597.4:p.Val790=
NM_173717.1:c.2367G>A	NP_776065.1:p.Val789=
XM_024450850.1:c.2529G>A	XP_024306618.1:p.Val843=
XM_024450851.1:c.2451G>A	XP_024306619.1:p.Val817=
XM_024450852.1:c.2448G>A	XP_024306620.1:p.Val816=
XM_024450853.1:c.2445G>A	XP_024306621.1:p.Val815=
XM_024450854.1:c.2409G>A	XP_024306622.1:p.Val803=
XM_024450855.1:c.2328G>A	XP_024306623.1:p.Val776=
XM_024450856.1:c.2247G>A	XP_024306624.1:p.Val749=
XM_024450857.1:c.2247G>A	XP_024306625.1:p.Val749=
XM_024450858.1:c.2166G>A	XP_024306626.1:p.Val722=
XM_024450859.1:c.2163G>A	XP_024306627.1:p.Val721=
XM_024450860.1:c.2088G>A	XP_024306628.1:p.Val696=
XM_024450861.1:c.2088G>A	XP_024306629.1:p.Val696=
XM_024450862.1:c.2085G>A	XP_024306630.1:p.Val695=
NM_018127.7:c.2370G>A MANE Select	NP_060597.4:p.Val790=
NM_001165962.2:c.2250G>A	NP_001159434.1:p.Val750=
NM_173717.2:c.2367G>A	NP_776065.1:p.Val789=