Canonical Allele Identifier: CA398222211

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896244C>G (hg19) ; chr17:g.12992927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992927C>G , CM000679.2:g.12992927C>G	GRCh38
NC_000017.10:g.12896244C>G , CM000679.1:g.12896244C>G	GRCh37
NC_000017.9:g.12836969C>G	NCBI36
NG_015808.1:g.30138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2372G>C MANE Select	ENSP00000337445.4:p.Arg791Pro
ENST00000338034.8:c.2372G>C	ENSP00000337445.4:p.Arg791Pro
ENST00000395962.6:c.2315G>C	ENSP00000379291.1:p.Arg772Pro
ENST00000426905.7:c.2252G>C	ENSP00000405223.3:p.Arg751Pro
ENST00000465825.5:n.2259G>C
ENST00000480891.5:n.2201G>C
ENST00000484122.5:n.3202G>C
ENST00000487229.6:n.1918G>C
ENST00000584650.5:c.1771G>C
NM_001165962.1:c.2252G>C	NP_001159434.1:p.Arg751Pro
NM_018127.6:c.2372G>C	NP_060597.4:p.Arg791Pro
NM_173717.1:c.2369G>C	NP_776065.1:p.Arg790Pro
XM_024450850.1:c.2531G>C	XP_024306618.1:p.Arg844Pro
XM_024450851.1:c.2453G>C	XP_024306619.1:p.Arg818Pro
XM_024450852.1:c.2450G>C	XP_024306620.1:p.Arg817Pro
XM_024450853.1:c.2447G>C	XP_024306621.1:p.Arg816Pro
XM_024450854.1:c.2411G>C	XP_024306622.1:p.Arg804Pro
XM_024450855.1:c.2330G>C	XP_024306623.1:p.Arg777Pro
XM_024450856.1:c.2249G>C	XP_024306624.1:p.Arg750Pro
XM_024450857.1:c.2249G>C	XP_024306625.1:p.Arg750Pro
XM_024450858.1:c.2168G>C	XP_024306626.1:p.Arg723Pro
XM_024450859.1:c.2165G>C	XP_024306627.1:p.Arg722Pro
XM_024450860.1:c.2090G>C	XP_024306628.1:p.Arg697Pro
XM_024450861.1:c.2090G>C	XP_024306629.1:p.Arg697Pro
XM_024450862.1:c.2087G>C	XP_024306630.1:p.Arg696Pro
NM_018127.7:c.2372G>C MANE Select	NP_060597.4:p.Arg791Pro
NM_001165962.2:c.2252G>C	NP_001159434.1:p.Arg751Pro
NM_173717.2:c.2369G>C	NP_776065.1:p.Arg790Pro