Canonical Allele Identifier: CA398222356

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896316A>C (hg19) ; chr17:g.12992999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992999A>C , CM000679.2:g.12992999A>C	GRCh38
NC_000017.10:g.12896316A>C , CM000679.1:g.12896316A>C	GRCh37
NC_000017.9:g.12837041A>C	NCBI36
NG_015808.1:g.30066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2300T>G MANE Select	ENSP00000337445.4:p.Leu767Arg
ENST00000338034.8:c.2300T>G	ENSP00000337445.4:p.Leu767Arg
ENST00000395962.6:c.2243T>G	ENSP00000379291.1:p.Leu748Arg
ENST00000426905.7:c.2180T>G	ENSP00000405223.3:p.Leu727Arg
ENST00000465825.5:n.2187T>G
ENST00000480891.5:n.2129T>G
ENST00000484122.5:n.3130T>G
ENST00000487229.6:n.1846T>G
ENST00000584650.5:c.1699T>G
NM_001165962.1:c.2180T>G	NP_001159434.1:p.Leu727Arg
NM_018127.6:c.2300T>G	NP_060597.4:p.Leu767Arg
NM_173717.1:c.2297T>G	NP_776065.1:p.Leu766Arg
XM_024450850.1:c.2459T>G	XP_024306618.1:p.Leu820Arg
XM_024450851.1:c.2381T>G	XP_024306619.1:p.Leu794Arg
XM_024450852.1:c.2378T>G	XP_024306620.1:p.Leu793Arg
XM_024450853.1:c.2375T>G	XP_024306621.1:p.Leu792Arg
XM_024450854.1:c.2339T>G	XP_024306622.1:p.Leu780Arg
XM_024450855.1:c.2258T>G	XP_024306623.1:p.Leu753Arg
XM_024450856.1:c.2177T>G	XP_024306624.1:p.Leu726Arg
XM_024450857.1:c.2177T>G	XP_024306625.1:p.Leu726Arg
XM_024450858.1:c.2096T>G	XP_024306626.1:p.Leu699Arg
XM_024450859.1:c.2093T>G	XP_024306627.1:p.Leu698Arg
XM_024450860.1:c.2018T>G	XP_024306628.1:p.Leu673Arg
XM_024450861.1:c.2018T>G	XP_024306629.1:p.Leu673Arg
XM_024450862.1:c.2015T>G	XP_024306630.1:p.Leu672Arg
NM_018127.7:c.2300T>G MANE Select	NP_060597.4:p.Leu767Arg
NM_001165962.2:c.2180T>G	NP_001159434.1:p.Leu727Arg
NM_173717.2:c.2297T>G	NP_776065.1:p.Leu766Arg