Canonical Allele Identifier: CA398222243

Gene: ELAC2

Linked Data

• dbSNP Id: rs2040258986
• gnomAD v4: 17-12992945-C-T
• MyVariant Identifiers: chr17:g.12896262C>T (hg19) ; chr17:g.12992945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992945C>T , CM000679.2:g.12992945C>T	GRCh38
NC_000017.10:g.12896262C>T , CM000679.1:g.12896262C>T	GRCh37
NC_000017.9:g.12836987C>T	NCBI36
NG_015808.1:g.30120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2354G>A MANE Select	ENSP00000337445.4:p.Arg785Gln
ENST00000338034.8:c.2354G>A	ENSP00000337445.4:p.Arg785Gln
ENST00000395962.6:c.2297G>A	ENSP00000379291.1:p.Arg766Gln
ENST00000426905.7:c.2234G>A	ENSP00000405223.3:p.Arg745Gln
ENST00000465825.5:n.2241G>A
ENST00000480891.5:n.2183G>A
ENST00000484122.5:n.3184G>A
ENST00000487229.6:n.1900G>A
ENST00000584650.5:c.1753G>A
NM_001165962.1:c.2234G>A	NP_001159434.1:p.Arg745Gln
NM_018127.6:c.2354G>A	NP_060597.4:p.Arg785Gln
NM_173717.1:c.2351G>A	NP_776065.1:p.Arg784Gln
XM_024450850.1:c.2513G>A	XP_024306618.1:p.Arg838Gln
XM_024450851.1:c.2435G>A	XP_024306619.1:p.Arg812Gln
XM_024450852.1:c.2432G>A	XP_024306620.1:p.Arg811Gln
XM_024450853.1:c.2429G>A	XP_024306621.1:p.Arg810Gln
XM_024450854.1:c.2393G>A	XP_024306622.1:p.Arg798Gln
XM_024450855.1:c.2312G>A	XP_024306623.1:p.Arg771Gln
XM_024450856.1:c.2231G>A	XP_024306624.1:p.Arg744Gln
XM_024450857.1:c.2231G>A	XP_024306625.1:p.Arg744Gln
XM_024450858.1:c.2150G>A	XP_024306626.1:p.Arg717Gln
XM_024450859.1:c.2147G>A	XP_024306627.1:p.Arg716Gln
XM_024450860.1:c.2072G>A	XP_024306628.1:p.Arg691Gln
XM_024450861.1:c.2072G>A	XP_024306629.1:p.Arg691Gln
XM_024450862.1:c.2069G>A	XP_024306630.1:p.Arg690Gln
NM_018127.7:c.2354G>A MANE Select	NP_060597.4:p.Arg785Gln
NM_001165962.2:c.2234G>A	NP_001159434.1:p.Arg745Gln
NM_173717.2:c.2351G>A	NP_776065.1:p.Arg784Gln