Canonical Allele Identifier: CA398222064

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896168C>G (hg19) ; chr17:g.12992851C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992851C>G , CM000679.2:g.12992851C>G	GRCh38
NC_000017.10:g.12896168C>G , CM000679.1:g.12896168C>G	GRCh37
NC_000017.9:g.12836893C>G	NCBI36
NG_015808.1:g.30214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2448G>C MANE Select	ENSP00000337445.4:p.Glu816Asp
ENST00000338034.8:c.2448G>C	ENSP00000337445.4:p.Glu816Asp
ENST00000395962.6:c.2391G>C	ENSP00000379291.1:p.Glu797Asp
ENST00000426905.7:c.2328G>C	ENSP00000405223.3:p.Glu776Asp
ENST00000465825.5:n.2335G>C
ENST00000480891.5:n.2277G>C
ENST00000484122.5:n.3278G>C
ENST00000487229.6:n.1994G>C
ENST00000584650.5:c.1847G>C
NM_001165962.1:c.2328G>C	NP_001159434.1:p.Glu776Asp
NM_018127.6:c.2448G>C	NP_060597.4:p.Glu816Asp
NM_173717.1:c.2445G>C	NP_776065.1:p.Glu815Asp
XM_024450850.1:c.2607G>C	XP_024306618.1:p.Glu869Asp
XM_024450851.1:c.2529G>C	XP_024306619.1:p.Glu843Asp
XM_024450852.1:c.2526G>C	XP_024306620.1:p.Glu842Asp
XM_024450853.1:c.2523G>C	XP_024306621.1:p.Glu841Asp
XM_024450854.1:c.2487G>C	XP_024306622.1:p.Glu829Asp
XM_024450855.1:c.2406G>C	XP_024306623.1:p.Glu802Asp
XM_024450856.1:c.2325G>C	XP_024306624.1:p.Glu775Asp
XM_024450857.1:c.2325G>C	XP_024306625.1:p.Glu775Asp
XM_024450858.1:c.2244G>C	XP_024306626.1:p.Glu748Asp
XM_024450859.1:c.2241G>C	XP_024306627.1:p.Glu747Asp
XM_024450860.1:c.2166G>C	XP_024306628.1:p.Glu722Asp
XM_024450861.1:c.2166G>C	XP_024306629.1:p.Glu722Asp
XM_024450862.1:c.2163G>C	XP_024306630.1:p.Glu721Asp
NM_018127.7:c.2448G>C MANE Select	NP_060597.4:p.Glu816Asp
NM_001165962.2:c.2328G>C	NP_001159434.1:p.Glu776Asp
NM_173717.2:c.2445G>C	NP_776065.1:p.Glu815Asp