Canonical Allele Identifier: CA117236

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 5059
• ClinVar RCV Id: RCV000005362 ; RCV000230766
• dbSNP Id: rs119484087
• ExAC: 17:12898323 T / A
• gnomAD v2: 17-12898323-T-A
• gnomAD v3: 17-12995006-T-A
• gnomAD v4: 17-12995006-T-A
• MyVariant Identifiers: chr17:g.12898323T>A (hg19) ; chr17:g.12995006T>A (hg38)
• PubMed: PMID:11507049

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.1865A>T MANE Select	ENSP00000337445.4:p.Glu622Val
ENST00000338034.8:c.1865A>T	ENSP00000337445.4:p.Glu622Val
ENST00000395962.6:c.1808A>T	ENSP00000379291.1:p.Glu603Val
ENST00000426905.7:c.1745A>T	ENSP00000405223.3:p.Glu582Val
ENST00000465825.5:n.1752A>T
ENST00000480891.5:n.1694A>T
ENST00000484122.5:n.2695A>T
ENST00000487229.6:n.1411A>T
ENST00000491478.5:n.442A>T
ENST00000584650.5:c.1264A>T
NM_001165962.1:c.1745A>T	NP_001159434.1:p.Glu582Val
NM_018127.6:c.1865A>T	NP_060597.4:p.Glu622Val
NM_173717.1:c.1862A>T	NP_776065.1:p.Glu621Val
XM_024450850.1:c.1946A>T	XP_024306618.1:p.Glu649Val
XM_024450851.1:c.1946A>T	XP_024306619.1:p.Glu649Val
XM_024450852.1:c.1865A>T	XP_024306620.1:p.Glu622Val
XM_024450853.1:c.1862A>T	XP_024306621.1:p.Glu621Val
XM_024450854.1:c.1826A>T	XP_024306622.1:p.Glu609Val
XM_024450855.1:c.1745A>T	XP_024306623.1:p.Glu582Val
XM_024450856.1:c.1664A>T	XP_024306624.1:p.Glu555Val
XM_024450857.1:c.1664A>T	XP_024306625.1:p.Glu555Val
XM_024450858.1:c.1583A>T	XP_024306626.1:p.Glu528Val
XM_024450859.1:c.1580A>T	XP_024306627.1:p.Glu527Val
XM_024450860.1:c.1583A>T	XP_024306628.1:p.Glu528Val
XM_024450861.1:c.1583A>T	XP_024306629.1:p.Glu528Val
XM_024450862.1:c.1580A>T	XP_024306630.1:p.Glu527Val
NM_018127.7:c.1865A>T MANE Select	NP_060597.4:p.Glu622Val
NM_001165962.2:c.1745A>T	NP_001159434.1:p.Glu582Val
NM_173717.2:c.1862A>T	NP_776065.1:p.Glu621Val