Canonical Allele Identifier: CA398222128

Gene: ELAC2

Linked Data

• dbSNP Id: rs748902752
• MyVariant Identifiers: chr17:g.12896199C>G (hg19) ; chr17:g.12992882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992882C>G , CM000679.2:g.12992882C>G	GRCh38
NC_000017.10:g.12896199C>G , CM000679.1:g.12896199C>G	GRCh37
NC_000017.9:g.12836924C>G	NCBI36
NG_015808.1:g.30183G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2417G>C MANE Select	ENSP00000337445.4:p.Gly806Ala
ENST00000338034.8:c.2417G>C	ENSP00000337445.4:p.Gly806Ala
ENST00000395962.6:c.2360G>C	ENSP00000379291.1:p.Gly787Ala
ENST00000426905.7:c.2297G>C	ENSP00000405223.3:p.Gly766Ala
ENST00000465825.5:n.2304G>C
ENST00000480891.5:n.2246G>C
ENST00000484122.5:n.3247G>C
ENST00000487229.6:n.1963G>C
ENST00000584650.5:c.1816G>C
NM_001165962.1:c.2297G>C	NP_001159434.1:p.Gly766Ala
NM_018127.6:c.2417G>C	NP_060597.4:p.Gly806Ala
NM_173717.1:c.2414G>C	NP_776065.1:p.Gly805Ala
XM_024450850.1:c.2576G>C	XP_024306618.1:p.Gly859Ala
XM_024450851.1:c.2498G>C	XP_024306619.1:p.Gly833Ala
XM_024450852.1:c.2495G>C	XP_024306620.1:p.Gly832Ala
XM_024450853.1:c.2492G>C	XP_024306621.1:p.Gly831Ala
XM_024450854.1:c.2456G>C	XP_024306622.1:p.Gly819Ala
XM_024450855.1:c.2375G>C	XP_024306623.1:p.Gly792Ala
XM_024450856.1:c.2294G>C	XP_024306624.1:p.Gly765Ala
XM_024450857.1:c.2294G>C	XP_024306625.1:p.Gly765Ala
XM_024450858.1:c.2213G>C	XP_024306626.1:p.Gly738Ala
XM_024450859.1:c.2210G>C	XP_024306627.1:p.Gly737Ala
XM_024450860.1:c.2135G>C	XP_024306628.1:p.Gly712Ala
XM_024450861.1:c.2135G>C	XP_024306629.1:p.Gly712Ala
XM_024450862.1:c.2132G>C	XP_024306630.1:p.Gly711Ala
NM_018127.7:c.2417G>C MANE Select	NP_060597.4:p.Gly806Ala
NM_001165962.2:c.2297G>C	NP_001159434.1:p.Gly766Ala
NM_173717.2:c.2414G>C	NP_776065.1:p.Gly805Ala