Canonical Allele Identifier: CA398222318

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896298C>G (hg19) ; chr17:g.12992981C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992981C>G , CM000679.2:g.12992981C>G	GRCh38
NC_000017.10:g.12896298C>G , CM000679.1:g.12896298C>G	GRCh37
NC_000017.9:g.12837023C>G	NCBI36
NG_015808.1:g.30084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2318G>C MANE Select	ENSP00000337445.4:p.Gly773Ala
ENST00000338034.8:c.2318G>C	ENSP00000337445.4:p.Gly773Ala
ENST00000395962.6:c.2261G>C	ENSP00000379291.1:p.Gly754Ala
ENST00000426905.7:c.2198G>C	ENSP00000405223.3:p.Gly733Ala
ENST00000465825.5:n.2205G>C
ENST00000480891.5:n.2147G>C
ENST00000484122.5:n.3148G>C
ENST00000487229.6:n.1864G>C
ENST00000584650.5:c.1717G>C
NM_001165962.1:c.2198G>C	NP_001159434.1:p.Gly733Ala
NM_018127.6:c.2318G>C	NP_060597.4:p.Gly773Ala
NM_173717.1:c.2315G>C	NP_776065.1:p.Gly772Ala
XM_024450850.1:c.2477G>C	XP_024306618.1:p.Gly826Ala
XM_024450851.1:c.2399G>C	XP_024306619.1:p.Gly800Ala
XM_024450852.1:c.2396G>C	XP_024306620.1:p.Gly799Ala
XM_024450853.1:c.2393G>C	XP_024306621.1:p.Gly798Ala
XM_024450854.1:c.2357G>C	XP_024306622.1:p.Gly786Ala
XM_024450855.1:c.2276G>C	XP_024306623.1:p.Gly759Ala
XM_024450856.1:c.2195G>C	XP_024306624.1:p.Gly732Ala
XM_024450857.1:c.2195G>C	XP_024306625.1:p.Gly732Ala
XM_024450858.1:c.2114G>C	XP_024306626.1:p.Gly705Ala
XM_024450859.1:c.2111G>C	XP_024306627.1:p.Gly704Ala
XM_024450860.1:c.2036G>C	XP_024306628.1:p.Gly679Ala
XM_024450861.1:c.2036G>C	XP_024306629.1:p.Gly679Ala
XM_024450862.1:c.2033G>C	XP_024306630.1:p.Gly678Ala
NM_018127.7:c.2318G>C MANE Select	NP_060597.4:p.Gly773Ala
NM_001165962.2:c.2198G>C	NP_001159434.1:p.Gly733Ala
NM_173717.2:c.2315G>C	NP_776065.1:p.Gly772Ala