Canonical Allele Identifier: CA398222154

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896211C>A (hg19) ; chr17:g.12992894C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992894C>A , CM000679.2:g.12992894C>A	GRCh38
NC_000017.10:g.12896211C>A , CM000679.1:g.12896211C>A	GRCh37
NC_000017.9:g.12836936C>A	NCBI36
NG_015808.1:g.30171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2405G>T MANE Select	ENSP00000337445.4:p.Gly802Val
ENST00000338034.8:c.2405G>T	ENSP00000337445.4:p.Gly802Val
ENST00000395962.6:c.2348G>T	ENSP00000379291.1:p.Gly783Val
ENST00000426905.7:c.2285G>T	ENSP00000405223.3:p.Gly762Val
ENST00000465825.5:n.2292G>T
ENST00000480891.5:n.2234G>T
ENST00000484122.5:n.3235G>T
ENST00000487229.6:n.1951G>T
ENST00000584650.5:c.1804G>T
NM_001165962.1:c.2285G>T	NP_001159434.1:p.Gly762Val
NM_018127.6:c.2405G>T	NP_060597.4:p.Gly802Val
NM_173717.1:c.2402G>T	NP_776065.1:p.Gly801Val
XM_024450850.1:c.2564G>T	XP_024306618.1:p.Gly855Val
XM_024450851.1:c.2486G>T	XP_024306619.1:p.Gly829Val
XM_024450852.1:c.2483G>T	XP_024306620.1:p.Gly828Val
XM_024450853.1:c.2480G>T	XP_024306621.1:p.Gly827Val
XM_024450854.1:c.2444G>T	XP_024306622.1:p.Gly815Val
XM_024450855.1:c.2363G>T	XP_024306623.1:p.Gly788Val
XM_024450856.1:c.2282G>T	XP_024306624.1:p.Gly761Val
XM_024450857.1:c.2282G>T	XP_024306625.1:p.Gly761Val
XM_024450858.1:c.2201G>T	XP_024306626.1:p.Gly734Val
XM_024450859.1:c.2198G>T	XP_024306627.1:p.Gly733Val
XM_024450860.1:c.2123G>T	XP_024306628.1:p.Gly708Val
XM_024450861.1:c.2123G>T	XP_024306629.1:p.Gly708Val
XM_024450862.1:c.2120G>T	XP_024306630.1:p.Gly707Val
NM_018127.7:c.2405G>T MANE Select	NP_060597.4:p.Gly802Val
NM_001165962.2:c.2285G>T	NP_001159434.1:p.Gly762Val
NM_173717.2:c.2402G>T	NP_776065.1:p.Gly801Val