Canonical Allele Identifier: CA498009653

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2738675
• ClinVar RCV Id: RCV003581507
• dbSNP Id: rs2040262705
• gnomAD v3: 17-12992971-C-T
• gnomAD v4: 17-12992971-C-T
• MyVariant Identifiers: chr17:g.12896288C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992971C>T , CM000679.2:g.12992971C>T	GRCh38
NC_000017.10:g.12896288C>T , CM000679.1:g.12896288C>T	GRCh37
NC_000017.9:g.12837013C>T	NCBI36
NG_015808.1:g.30094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2328G>A MANE Select	ENSP00000337445.4:p.Glu776=
ENST00000338034.8:c.2328G>A	ENSP00000337445.4:p.Glu776=
ENST00000395962.6:c.2271G>A	ENSP00000379291.1:p.Glu757=
ENST00000426905.7:c.2208G>A	ENSP00000405223.3:p.Glu736=
ENST00000465825.5:n.2215G>A
ENST00000480891.5:n.2157G>A
ENST00000484122.5:n.3158G>A
ENST00000487229.6:n.1874G>A
ENST00000584650.5:c.1727G>A
NM_001165962.1:c.2208G>A	NP_001159434.1:p.Glu736=
NM_018127.6:c.2328G>A	NP_060597.4:p.Glu776=
NM_173717.1:c.2325G>A	NP_776065.1:p.Glu775=
XM_024450850.1:c.2487G>A	XP_024306618.1:p.Glu829=
XM_024450851.1:c.2409G>A	XP_024306619.1:p.Glu803=
XM_024450852.1:c.2406G>A	XP_024306620.1:p.Glu802=
XM_024450853.1:c.2403G>A	XP_024306621.1:p.Glu801=
XM_024450854.1:c.2367G>A	XP_024306622.1:p.Glu789=
XM_024450855.1:c.2286G>A	XP_024306623.1:p.Glu762=
XM_024450856.1:c.2205G>A	XP_024306624.1:p.Glu735=
XM_024450857.1:c.2205G>A	XP_024306625.1:p.Glu735=
XM_024450858.1:c.2124G>A	XP_024306626.1:p.Glu708=
XM_024450859.1:c.2121G>A	XP_024306627.1:p.Glu707=
XM_024450860.1:c.2046G>A	XP_024306628.1:p.Glu682=
XM_024450861.1:c.2046G>A	XP_024306629.1:p.Glu682=
XM_024450862.1:c.2043G>A	XP_024306630.1:p.Glu681=
NM_018127.7:c.2328G>A MANE Select	NP_060597.4:p.Glu776=
NM_001165962.2:c.2208G>A	NP_001159434.1:p.Glu736=
NM_173717.2:c.2325G>A	NP_776065.1:p.Glu775=