Canonical Allele Identifier: CA288074947

Gene: ELAC2

Linked Data

• dbSNP Id: rs770669443
• gnomAD v2: 17-12896200-C-G
• gnomAD v4: 17-12992883-C-G
• MyVariant Identifiers: chr17:g.12896200C>G (hg19) ; chr17:g.12992883C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992883C>G , CM000679.2:g.12992883C>G	GRCh38
NC_000017.10:g.12896200C>G , CM000679.1:g.12896200C>G	GRCh37
NC_000017.9:g.12836925C>G	NCBI36
NG_015808.1:g.30182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2416G>C MANE Select	ENSP00000337445.4:p.Gly806Arg
ENST00000338034.8:c.2416G>C	ENSP00000337445.4:p.Gly806Arg
ENST00000395962.6:c.2359G>C	ENSP00000379291.1:p.Gly787Arg
ENST00000426905.7:c.2296G>C	ENSP00000405223.3:p.Gly766Arg
ENST00000465825.5:n.2303G>C
ENST00000480891.5:n.2245G>C
ENST00000484122.5:n.3246G>C
ENST00000487229.6:n.1962G>C
ENST00000584650.5:c.1815G>C
NM_001165962.1:c.2296G>C	NP_001159434.1:p.Gly766Arg
NM_018127.6:c.2416G>C	NP_060597.4:p.Gly806Arg
NM_173717.1:c.2413G>C	NP_776065.1:p.Gly805Arg
XM_024450850.1:c.2575G>C	XP_024306618.1:p.Gly859Arg
XM_024450851.1:c.2497G>C	XP_024306619.1:p.Gly833Arg
XM_024450852.1:c.2494G>C	XP_024306620.1:p.Gly832Arg
XM_024450853.1:c.2491G>C	XP_024306621.1:p.Gly831Arg
XM_024450854.1:c.2455G>C	XP_024306622.1:p.Gly819Arg
XM_024450855.1:c.2374G>C	XP_024306623.1:p.Gly792Arg
XM_024450856.1:c.2293G>C	XP_024306624.1:p.Gly765Arg
XM_024450857.1:c.2293G>C	XP_024306625.1:p.Gly765Arg
XM_024450858.1:c.2212G>C	XP_024306626.1:p.Gly738Arg
XM_024450859.1:c.2209G>C	XP_024306627.1:p.Gly737Arg
XM_024450860.1:c.2134G>C	XP_024306628.1:p.Gly712Arg
XM_024450861.1:c.2134G>C	XP_024306629.1:p.Gly712Arg
XM_024450862.1:c.2131G>C	XP_024306630.1:p.Gly711Arg
NM_018127.7:c.2416G>C MANE Select	NP_060597.4:p.Gly806Arg
NM_001165962.2:c.2296G>C	NP_001159434.1:p.Gly766Arg
NM_173717.2:c.2413G>C	NP_776065.1:p.Gly805Arg