Canonical Allele Identifier: CA398222358

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896316A>T (hg19) ; chr17:g.12992999A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992999A>T , CM000679.2:g.12992999A>T	GRCh38
NC_000017.10:g.12896316A>T , CM000679.1:g.12896316A>T	GRCh37
NC_000017.9:g.12837041A>T	NCBI36
NG_015808.1:g.30066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2300T>A MANE Select	ENSP00000337445.4:p.Leu767Gln
ENST00000338034.8:c.2300T>A	ENSP00000337445.4:p.Leu767Gln
ENST00000395962.6:c.2243T>A	ENSP00000379291.1:p.Leu748Gln
ENST00000426905.7:c.2180T>A	ENSP00000405223.3:p.Leu727Gln
ENST00000465825.5:n.2187T>A
ENST00000480891.5:n.2129T>A
ENST00000484122.5:n.3130T>A
ENST00000487229.6:n.1846T>A
ENST00000584650.5:c.1699T>A
NM_001165962.1:c.2180T>A	NP_001159434.1:p.Leu727Gln
NM_018127.6:c.2300T>A	NP_060597.4:p.Leu767Gln
NM_173717.1:c.2297T>A	NP_776065.1:p.Leu766Gln
XM_024450850.1:c.2459T>A	XP_024306618.1:p.Leu820Gln
XM_024450851.1:c.2381T>A	XP_024306619.1:p.Leu794Gln
XM_024450852.1:c.2378T>A	XP_024306620.1:p.Leu793Gln
XM_024450853.1:c.2375T>A	XP_024306621.1:p.Leu792Gln
XM_024450854.1:c.2339T>A	XP_024306622.1:p.Leu780Gln
XM_024450855.1:c.2258T>A	XP_024306623.1:p.Leu753Gln
XM_024450856.1:c.2177T>A	XP_024306624.1:p.Leu726Gln
XM_024450857.1:c.2177T>A	XP_024306625.1:p.Leu726Gln
XM_024450858.1:c.2096T>A	XP_024306626.1:p.Leu699Gln
XM_024450859.1:c.2093T>A	XP_024306627.1:p.Leu698Gln
XM_024450860.1:c.2018T>A	XP_024306628.1:p.Leu673Gln
XM_024450861.1:c.2018T>A	XP_024306629.1:p.Leu673Gln
XM_024450862.1:c.2015T>A	XP_024306630.1:p.Leu672Gln
NM_018127.7:c.2300T>A MANE Select	NP_060597.4:p.Leu767Gln
NM_001165962.2:c.2180T>A	NP_001159434.1:p.Leu727Gln
NM_173717.2:c.2297T>A	NP_776065.1:p.Leu766Gln