Canonical Allele Identifier: CA398222130

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896200C>A (hg19) ; chr17:g.12992883C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2416G>T MANE Select	ENSP00000337445.4:p.Gly806Trp
ENST00000338034.8:c.2416G>T	ENSP00000337445.4:p.Gly806Trp
ENST00000395962.6:c.2359G>T	ENSP00000379291.1:p.Gly787Trp
ENST00000426905.7:c.2296G>T	ENSP00000405223.3:p.Gly766Trp
ENST00000465825.5:n.2303G>T
ENST00000480891.5:n.2245G>T
ENST00000484122.5:n.3246G>T
ENST00000487229.6:n.1962G>T
ENST00000584650.5:c.1815G>T
NM_001165962.1:c.2296G>T	NP_001159434.1:p.Gly766Trp
NM_018127.6:c.2416G>T	NP_060597.4:p.Gly806Trp
NM_173717.1:c.2413G>T	NP_776065.1:p.Gly805Trp
XM_024450850.1:c.2575G>T	XP_024306618.1:p.Gly859Trp
XM_024450851.1:c.2497G>T	XP_024306619.1:p.Gly833Trp
XM_024450852.1:c.2494G>T	XP_024306620.1:p.Gly832Trp
XM_024450853.1:c.2491G>T	XP_024306621.1:p.Gly831Trp
XM_024450854.1:c.2455G>T	XP_024306622.1:p.Gly819Trp
XM_024450855.1:c.2374G>T	XP_024306623.1:p.Gly792Trp
XM_024450856.1:c.2293G>T	XP_024306624.1:p.Gly765Trp
XM_024450857.1:c.2293G>T	XP_024306625.1:p.Gly765Trp
XM_024450858.1:c.2212G>T	XP_024306626.1:p.Gly738Trp
XM_024450859.1:c.2209G>T	XP_024306627.1:p.Gly737Trp
XM_024450860.1:c.2134G>T	XP_024306628.1:p.Gly712Trp
XM_024450861.1:c.2134G>T	XP_024306629.1:p.Gly712Trp
XM_024450862.1:c.2131G>T	XP_024306630.1:p.Gly711Trp
NM_018127.7:c.2416G>T MANE Select	NP_060597.4:p.Gly806Trp
NM_001165962.2:c.2296G>T	NP_001159434.1:p.Gly766Trp
NM_173717.2:c.2413G>T	NP_776065.1:p.Gly805Trp