Canonical Allele Identifier: CA398222150

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896209G>C (hg19) ; chr17:g.12992892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992892G>C , CM000679.2:g.12992892G>C	GRCh38
NC_000017.10:g.12896209G>C , CM000679.1:g.12896209G>C	GRCh37
NC_000017.9:g.12836934G>C	NCBI36
NG_015808.1:g.30173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2407C>G MANE Select	ENSP00000337445.4:p.Leu803Val
ENST00000338034.8:c.2407C>G	ENSP00000337445.4:p.Leu803Val
ENST00000395962.6:c.2350C>G	ENSP00000379291.1:p.Leu784Val
ENST00000426905.7:c.2287C>G	ENSP00000405223.3:p.Leu763Val
ENST00000465825.5:n.2294C>G
ENST00000480891.5:n.2236C>G
ENST00000484122.5:n.3237C>G
ENST00000487229.6:n.1953C>G
ENST00000584650.5:c.1806C>G
NM_001165962.1:c.2287C>G	NP_001159434.1:p.Leu763Val
NM_018127.6:c.2407C>G	NP_060597.4:p.Leu803Val
NM_173717.1:c.2404C>G	NP_776065.1:p.Leu802Val
XM_024450850.1:c.2566C>G	XP_024306618.1:p.Leu856Val
XM_024450851.1:c.2488C>G	XP_024306619.1:p.Leu830Val
XM_024450852.1:c.2485C>G	XP_024306620.1:p.Leu829Val
XM_024450853.1:c.2482C>G	XP_024306621.1:p.Leu828Val
XM_024450854.1:c.2446C>G	XP_024306622.1:p.Leu816Val
XM_024450855.1:c.2365C>G	XP_024306623.1:p.Leu789Val
XM_024450856.1:c.2284C>G	XP_024306624.1:p.Leu762Val
XM_024450857.1:c.2284C>G	XP_024306625.1:p.Leu762Val
XM_024450858.1:c.2203C>G	XP_024306626.1:p.Leu735Val
XM_024450859.1:c.2200C>G	XP_024306627.1:p.Leu734Val
XM_024450860.1:c.2125C>G	XP_024306628.1:p.Leu709Val
XM_024450861.1:c.2125C>G	XP_024306629.1:p.Leu709Val
XM_024450862.1:c.2122C>G	XP_024306630.1:p.Leu708Val
NM_018127.7:c.2407C>G MANE Select	NP_060597.4:p.Leu803Val
NM_001165962.2:c.2287C>G	NP_001159434.1:p.Leu763Val
NM_173717.2:c.2404C>G	NP_776065.1:p.Leu802Val