Canonical Allele Identifier: CA398222303

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896289T>G (hg19) ; chr17:g.12992972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992972T>G , CM000679.2:g.12992972T>G	GRCh38
NC_000017.10:g.12896289T>G , CM000679.1:g.12896289T>G	GRCh37
NC_000017.9:g.12837014T>G	NCBI36
NG_015808.1:g.30093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2327A>C MANE Select	ENSP00000337445.4:p.Glu776Ala
ENST00000338034.8:c.2327A>C	ENSP00000337445.4:p.Glu776Ala
ENST00000395962.6:c.2270A>C	ENSP00000379291.1:p.Glu757Ala
ENST00000426905.7:c.2207A>C	ENSP00000405223.3:p.Glu736Ala
ENST00000465825.5:n.2214A>C
ENST00000480891.5:n.2156A>C
ENST00000484122.5:n.3157A>C
ENST00000487229.6:n.1873A>C
ENST00000584650.5:c.1726A>C
NM_001165962.1:c.2207A>C	NP_001159434.1:p.Glu736Ala
NM_018127.6:c.2327A>C	NP_060597.4:p.Glu776Ala
NM_173717.1:c.2324A>C	NP_776065.1:p.Glu775Ala
XM_024450850.1:c.2486A>C	XP_024306618.1:p.Glu829Ala
XM_024450851.1:c.2408A>C	XP_024306619.1:p.Glu803Ala
XM_024450852.1:c.2405A>C	XP_024306620.1:p.Glu802Ala
XM_024450853.1:c.2402A>C	XP_024306621.1:p.Glu801Ala
XM_024450854.1:c.2366A>C	XP_024306622.1:p.Glu789Ala
XM_024450855.1:c.2285A>C	XP_024306623.1:p.Glu762Ala
XM_024450856.1:c.2204A>C	XP_024306624.1:p.Glu735Ala
XM_024450857.1:c.2204A>C	XP_024306625.1:p.Glu735Ala
XM_024450858.1:c.2123A>C	XP_024306626.1:p.Glu708Ala
XM_024450859.1:c.2120A>C	XP_024306627.1:p.Glu707Ala
XM_024450860.1:c.2045A>C	XP_024306628.1:p.Glu682Ala
XM_024450861.1:c.2045A>C	XP_024306629.1:p.Glu682Ala
XM_024450862.1:c.2042A>C	XP_024306630.1:p.Glu681Ala
NM_018127.7:c.2327A>C MANE Select	NP_060597.4:p.Glu776Ala
NM_001165962.2:c.2207A>C	NP_001159434.1:p.Glu736Ala
NM_173717.2:c.2324A>C	NP_776065.1:p.Glu775Ala