Canonical Allele Identifier: CA398222378

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896328A>C (hg19) ; chr17:g.12993011A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993011A>C , CM000679.2:g.12993011A>C	GRCh38
NC_000017.10:g.12896328A>C , CM000679.1:g.12896328A>C	GRCh37
NC_000017.9:g.12837053A>C	NCBI36
NG_015808.1:g.30054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2288T>G MANE Select	ENSP00000337445.4:p.Leu763Arg
ENST00000338034.8:c.2288T>G	ENSP00000337445.4:p.Leu763Arg
ENST00000395962.6:c.2231T>G	ENSP00000379291.1:p.Leu744Arg
ENST00000426905.7:c.2168T>G	ENSP00000405223.3:p.Leu723Arg
ENST00000465825.5:n.2175T>G
ENST00000480891.5:n.2117T>G
ENST00000484122.5:n.3118T>G
ENST00000487229.6:n.1834T>G
ENST00000584650.5:c.1687T>G
NM_001165962.1:c.2168T>G	NP_001159434.1:p.Leu723Arg
NM_018127.6:c.2288T>G	NP_060597.4:p.Leu763Arg
NM_173717.1:c.2285T>G	NP_776065.1:p.Leu762Arg
XM_024450850.1:c.2447T>G	XP_024306618.1:p.Leu816Arg
XM_024450851.1:c.2369T>G	XP_024306619.1:p.Leu790Arg
XM_024450852.1:c.2366T>G	XP_024306620.1:p.Leu789Arg
XM_024450853.1:c.2363T>G	XP_024306621.1:p.Leu788Arg
XM_024450854.1:c.2327T>G	XP_024306622.1:p.Leu776Arg
XM_024450855.1:c.2246T>G	XP_024306623.1:p.Leu749Arg
XM_024450856.1:c.2165T>G	XP_024306624.1:p.Leu722Arg
XM_024450857.1:c.2165T>G	XP_024306625.1:p.Leu722Arg
XM_024450858.1:c.2084T>G	XP_024306626.1:p.Leu695Arg
XM_024450859.1:c.2081T>G	XP_024306627.1:p.Leu694Arg
XM_024450860.1:c.2006T>G	XP_024306628.1:p.Leu669Arg
XM_024450861.1:c.2006T>G	XP_024306629.1:p.Leu669Arg
XM_024450862.1:c.2003T>G	XP_024306630.1:p.Leu668Arg
NM_018127.7:c.2288T>G MANE Select	NP_060597.4:p.Leu763Arg
NM_001165962.2:c.2168T>G	NP_001159434.1:p.Leu723Arg
NM_173717.2:c.2285T>G	NP_776065.1:p.Leu762Arg