Canonical Allele Identifier: CA398222171

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896220A>C (hg19) ; chr17:g.12992903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992903A>C , CM000679.2:g.12992903A>C	GRCh38
NC_000017.10:g.12896220A>C , CM000679.1:g.12896220A>C	GRCh37
NC_000017.9:g.12836945A>C	NCBI36
NG_015808.1:g.30162T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2396T>G MANE Select	ENSP00000337445.4:p.Leu799Arg
ENST00000338034.8:c.2396T>G	ENSP00000337445.4:p.Leu799Arg
ENST00000395962.6:c.2339T>G	ENSP00000379291.1:p.Leu780Arg
ENST00000426905.7:c.2276T>G	ENSP00000405223.3:p.Leu759Arg
ENST00000465825.5:n.2283T>G
ENST00000480891.5:n.2225T>G
ENST00000484122.5:n.3226T>G
ENST00000487229.6:n.1942T>G
ENST00000584650.5:c.1795T>G
NM_001165962.1:c.2276T>G	NP_001159434.1:p.Leu759Arg
NM_018127.6:c.2396T>G	NP_060597.4:p.Leu799Arg
NM_173717.1:c.2393T>G	NP_776065.1:p.Leu798Arg
XM_024450850.1:c.2555T>G	XP_024306618.1:p.Leu852Arg
XM_024450851.1:c.2477T>G	XP_024306619.1:p.Leu826Arg
XM_024450852.1:c.2474T>G	XP_024306620.1:p.Leu825Arg
XM_024450853.1:c.2471T>G	XP_024306621.1:p.Leu824Arg
XM_024450854.1:c.2435T>G	XP_024306622.1:p.Leu812Arg
XM_024450855.1:c.2354T>G	XP_024306623.1:p.Leu785Arg
XM_024450856.1:c.2273T>G	XP_024306624.1:p.Leu758Arg
XM_024450857.1:c.2273T>G	XP_024306625.1:p.Leu758Arg
XM_024450858.1:c.2192T>G	XP_024306626.1:p.Leu731Arg
XM_024450859.1:c.2189T>G	XP_024306627.1:p.Leu730Arg
XM_024450860.1:c.2114T>G	XP_024306628.1:p.Leu705Arg
XM_024450861.1:c.2114T>G	XP_024306629.1:p.Leu705Arg
XM_024450862.1:c.2111T>G	XP_024306630.1:p.Leu704Arg
NM_018127.7:c.2396T>G MANE Select	NP_060597.4:p.Leu799Arg
NM_001165962.2:c.2276T>G	NP_001159434.1:p.Leu759Arg
NM_173717.2:c.2393T>G	NP_776065.1:p.Leu798Arg