Canonical Allele Identifier: CA8400793

Gene: ELAC2

Linked Data

• dbSNP Id: rs751437403
• ExAC: 17:12896179 C / G
• gnomAD v2: 17-12896179-C-G
• gnomAD v4: 17-12992862-C-G
• MyVariant Identifiers: chr17:g.12896179C>G (hg19) ; chr17:g.12992862C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992862C>G , CM000679.2:g.12992862C>G	GRCh38
NC_000017.10:g.12896179C>G , CM000679.1:g.12896179C>G	GRCh37
NC_000017.9:g.12836904C>G	NCBI36
NG_015808.1:g.30203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2437G>C MANE Select	ENSP00000337445.4:p.Ala813Pro
ENST00000338034.8:c.2437G>C	ENSP00000337445.4:p.Ala813Pro
ENST00000395962.6:c.2380G>C	ENSP00000379291.1:p.Ala794Pro
ENST00000426905.7:c.2317G>C	ENSP00000405223.3:p.Ala773Pro
ENST00000465825.5:n.2324G>C
ENST00000480891.5:n.2266G>C
ENST00000484122.5:n.3267G>C
ENST00000487229.6:n.1983G>C
ENST00000584650.5:c.1836G>C
NM_001165962.1:c.2317G>C	NP_001159434.1:p.Ala773Pro
NM_018127.6:c.2437G>C	NP_060597.4:p.Ala813Pro
NM_173717.1:c.2434G>C	NP_776065.1:p.Ala812Pro
XM_024450850.1:c.2596G>C	XP_024306618.1:p.Ala866Pro
XM_024450851.1:c.2518G>C	XP_024306619.1:p.Ala840Pro
XM_024450852.1:c.2515G>C	XP_024306620.1:p.Ala839Pro
XM_024450853.1:c.2512G>C	XP_024306621.1:p.Ala838Pro
XM_024450854.1:c.2476G>C	XP_024306622.1:p.Ala826Pro
XM_024450855.1:c.2395G>C	XP_024306623.1:p.Ala799Pro
XM_024450856.1:c.2314G>C	XP_024306624.1:p.Ala772Pro
XM_024450857.1:c.2314G>C	XP_024306625.1:p.Ala772Pro
XM_024450858.1:c.2233G>C	XP_024306626.1:p.Ala745Pro
XM_024450859.1:c.2230G>C	XP_024306627.1:p.Ala744Pro
XM_024450860.1:c.2155G>C	XP_024306628.1:p.Ala719Pro
XM_024450861.1:c.2155G>C	XP_024306629.1:p.Ala719Pro
XM_024450862.1:c.2152G>C	XP_024306630.1:p.Ala718Pro
NM_018127.7:c.2437G>C MANE Select	NP_060597.4:p.Ala813Pro
NM_001165962.2:c.2317G>C	NP_001159434.1:p.Ala773Pro
NM_173717.2:c.2434G>C	NP_776065.1:p.Ala812Pro