Canonical Allele Identifier: CA398222199

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896236G>C (hg19) ; chr17:g.12992919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992919G>C , CM000679.2:g.12992919G>C	GRCh38
NC_000017.10:g.12896236G>C , CM000679.1:g.12896236G>C	GRCh37
NC_000017.9:g.12836961G>C	NCBI36
NG_015808.1:g.30146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2380C>G MANE Select	ENSP00000337445.4:p.Leu794Val
ENST00000338034.8:c.2380C>G	ENSP00000337445.4:p.Leu794Val
ENST00000395962.6:c.2323C>G	ENSP00000379291.1:p.Leu775Val
ENST00000426905.7:c.2260C>G	ENSP00000405223.3:p.Leu754Val
ENST00000465825.5:n.2267C>G
ENST00000480891.5:n.2209C>G
ENST00000484122.5:n.3210C>G
ENST00000487229.6:n.1926C>G
ENST00000584650.5:c.1779C>G
NM_001165962.1:c.2260C>G	NP_001159434.1:p.Leu754Val
NM_018127.6:c.2380C>G	NP_060597.4:p.Leu794Val
NM_173717.1:c.2377C>G	NP_776065.1:p.Leu793Val
XM_024450850.1:c.2539C>G	XP_024306618.1:p.Leu847Val
XM_024450851.1:c.2461C>G	XP_024306619.1:p.Leu821Val
XM_024450852.1:c.2458C>G	XP_024306620.1:p.Leu820Val
XM_024450853.1:c.2455C>G	XP_024306621.1:p.Leu819Val
XM_024450854.1:c.2419C>G	XP_024306622.1:p.Leu807Val
XM_024450855.1:c.2338C>G	XP_024306623.1:p.Leu780Val
XM_024450856.1:c.2257C>G	XP_024306624.1:p.Leu753Val
XM_024450857.1:c.2257C>G	XP_024306625.1:p.Leu753Val
XM_024450858.1:c.2176C>G	XP_024306626.1:p.Leu726Val
XM_024450859.1:c.2173C>G	XP_024306627.1:p.Leu725Val
XM_024450860.1:c.2098C>G	XP_024306628.1:p.Leu700Val
XM_024450861.1:c.2098C>G	XP_024306629.1:p.Leu700Val
XM_024450862.1:c.2095C>G	XP_024306630.1:p.Leu699Val
NM_018127.7:c.2380C>G MANE Select	NP_060597.4:p.Leu794Val
NM_001165962.2:c.2260C>G	NP_001159434.1:p.Leu754Val
NM_173717.2:c.2377C>G	NP_776065.1:p.Leu793Val