Canonical Allele Identifier: CA498009615

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2768233
• ClinVar RCV Id: RCV003583151
• MyVariant Identifiers: chr17:g.12896237G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992920G>C , CM000679.2:g.12992920G>C	GRCh38
NC_000017.10:g.12896237G>C , CM000679.1:g.12896237G>C	GRCh37
NC_000017.9:g.12836962G>C	NCBI36
NG_015808.1:g.30145C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2379C>G MANE Select	ENSP00000337445.4:p.Ala793=
ENST00000338034.8:c.2379C>G	ENSP00000337445.4:p.Ala793=
ENST00000395962.6:c.2322C>G	ENSP00000379291.1:p.Ala774=
ENST00000426905.7:c.2259C>G	ENSP00000405223.3:p.Ala753=
ENST00000465825.5:n.2266C>G
ENST00000480891.5:n.2208C>G
ENST00000484122.5:n.3209C>G
ENST00000487229.6:n.1925C>G
ENST00000584650.5:c.1778C>G
NM_001165962.1:c.2259C>G	NP_001159434.1:p.Ala753=
NM_018127.6:c.2379C>G	NP_060597.4:p.Ala793=
NM_173717.1:c.2376C>G	NP_776065.1:p.Ala792=
XM_024450850.1:c.2538C>G	XP_024306618.1:p.Ala846=
XM_024450851.1:c.2460C>G	XP_024306619.1:p.Ala820=
XM_024450852.1:c.2457C>G	XP_024306620.1:p.Ala819=
XM_024450853.1:c.2454C>G	XP_024306621.1:p.Ala818=
XM_024450854.1:c.2418C>G	XP_024306622.1:p.Ala806=
XM_024450855.1:c.2337C>G	XP_024306623.1:p.Ala779=
XM_024450856.1:c.2256C>G	XP_024306624.1:p.Ala752=
XM_024450857.1:c.2256C>G	XP_024306625.1:p.Ala752=
XM_024450858.1:c.2175C>G	XP_024306626.1:p.Ala725=
XM_024450859.1:c.2172C>G	XP_024306627.1:p.Ala724=
XM_024450860.1:c.2097C>G	XP_024306628.1:p.Ala699=
XM_024450861.1:c.2097C>G	XP_024306629.1:p.Ala699=
XM_024450862.1:c.2094C>G	XP_024306630.1:p.Ala698=
NM_018127.7:c.2379C>G MANE Select	NP_060597.4:p.Ala793=
NM_001165962.2:c.2259C>G	NP_001159434.1:p.Ala753=
NM_173717.2:c.2376C>G	NP_776065.1:p.Ala792=