Canonical Allele Identifier: CA398222173

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896221G>T (hg19) ; chr17:g.12992904G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992904G>T , CM000679.2:g.12992904G>T	GRCh38
NC_000017.10:g.12896221G>T , CM000679.1:g.12896221G>T	GRCh37
NC_000017.9:g.12836946G>T	NCBI36
NG_015808.1:g.30161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2395C>A MANE Select	ENSP00000337445.4:p.Leu799Met
ENST00000338034.8:c.2395C>A	ENSP00000337445.4:p.Leu799Met
ENST00000395962.6:c.2338C>A	ENSP00000379291.1:p.Leu780Met
ENST00000426905.7:c.2275C>A	ENSP00000405223.3:p.Leu759Met
ENST00000465825.5:n.2282C>A
ENST00000480891.5:n.2224C>A
ENST00000484122.5:n.3225C>A
ENST00000487229.6:n.1941C>A
ENST00000584650.5:c.1794C>A
NM_001165962.1:c.2275C>A	NP_001159434.1:p.Leu759Met
NM_018127.6:c.2395C>A	NP_060597.4:p.Leu799Met
NM_173717.1:c.2392C>A	NP_776065.1:p.Leu798Met
XM_024450850.1:c.2554C>A	XP_024306618.1:p.Leu852Met
XM_024450851.1:c.2476C>A	XP_024306619.1:p.Leu826Met
XM_024450852.1:c.2473C>A	XP_024306620.1:p.Leu825Met
XM_024450853.1:c.2470C>A	XP_024306621.1:p.Leu824Met
XM_024450854.1:c.2434C>A	XP_024306622.1:p.Leu812Met
XM_024450855.1:c.2353C>A	XP_024306623.1:p.Leu785Met
XM_024450856.1:c.2272C>A	XP_024306624.1:p.Leu758Met
XM_024450857.1:c.2272C>A	XP_024306625.1:p.Leu758Met
XM_024450858.1:c.2191C>A	XP_024306626.1:p.Leu731Met
XM_024450859.1:c.2188C>A	XP_024306627.1:p.Leu730Met
XM_024450860.1:c.2113C>A	XP_024306628.1:p.Leu705Met
XM_024450861.1:c.2113C>A	XP_024306629.1:p.Leu705Met
XM_024450862.1:c.2110C>A	XP_024306630.1:p.Leu704Met
NM_018127.7:c.2395C>A MANE Select	NP_060597.4:p.Leu799Met
NM_001165962.2:c.2275C>A	NP_001159434.1:p.Leu759Met
NM_173717.2:c.2392C>A	NP_776065.1:p.Leu798Met