Canonical Allele Identifier: CA8401040

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1359788
• ClinVar RCV Id: RCV001904552 ; RCV002489990
• dbSNP Id: rs119484087
• ExAC: 17:12898323 T / C
• gnomAD v2: 17-12898323-T-C
• gnomAD v3: 17-12995006-T-C
• gnomAD v4: 17-12995006-T-C
• MyVariant Identifiers: chr17:g.12898323T>C (hg19) ; chr17:g.12995006T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12995006T>C , CM000679.2:g.12995006T>C	GRCh38
NC_000017.10:g.12898323T>C , CM000679.1:g.12898323T>C	GRCh37
NC_000017.9:g.12839048T>C	NCBI36
NG_015808.1:g.28059A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.1865A>G MANE Select	ENSP00000337445.4:p.Glu622Gly
ENST00000338034.8:c.1865A>G	ENSP00000337445.4:p.Glu622Gly
ENST00000395962.6:c.1808A>G	ENSP00000379291.1:p.Glu603Gly
ENST00000426905.7:c.1745A>G	ENSP00000405223.3:p.Glu582Gly
ENST00000465825.5:n.1752A>G
ENST00000480891.5:n.1694A>G
ENST00000484122.5:n.2695A>G
ENST00000487229.6:n.1411A>G
ENST00000491478.5:n.442A>G
ENST00000584650.5:c.1264A>G
NM_001165962.1:c.1745A>G	NP_001159434.1:p.Glu582Gly
NM_018127.6:c.1865A>G	NP_060597.4:p.Glu622Gly
NM_173717.1:c.1862A>G	NP_776065.1:p.Glu621Gly
XM_024450850.1:c.1946A>G	XP_024306618.1:p.Glu649Gly
XM_024450851.1:c.1946A>G	XP_024306619.1:p.Glu649Gly
XM_024450852.1:c.1865A>G	XP_024306620.1:p.Glu622Gly
XM_024450853.1:c.1862A>G	XP_024306621.1:p.Glu621Gly
XM_024450854.1:c.1826A>G	XP_024306622.1:p.Glu609Gly
XM_024450855.1:c.1745A>G	XP_024306623.1:p.Glu582Gly
XM_024450856.1:c.1664A>G	XP_024306624.1:p.Glu555Gly
XM_024450857.1:c.1664A>G	XP_024306625.1:p.Glu555Gly
XM_024450858.1:c.1583A>G	XP_024306626.1:p.Glu528Gly
XM_024450859.1:c.1580A>G	XP_024306627.1:p.Glu527Gly
XM_024450860.1:c.1583A>G	XP_024306628.1:p.Glu528Gly
XM_024450861.1:c.1583A>G	XP_024306629.1:p.Glu528Gly
XM_024450862.1:c.1580A>G	XP_024306630.1:p.Glu527Gly
NM_018127.7:c.1865A>G MANE Select	NP_060597.4:p.Glu622Gly
NM_001165962.2:c.1745A>G	NP_001159434.1:p.Glu582Gly
NM_173717.2:c.1862A>G	NP_776065.1:p.Glu621Gly