Canonical Allele Identifier: CA398223543

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 474562
• ClinVar RCV Id: RCV000786127 ; RCV000541060 ; RCV003993669
• dbSNP Id: rs1435693717
• gnomAD v2: 17-12899048-G-C
• gnomAD v4: 17-12995731-G-C
• MyVariant Identifiers: chr17:g.12899048G>C (hg19) ; chr17:g.12995731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12995731G>C , CM000679.2:g.12995731G>C	GRCh38
NC_000017.10:g.12899048G>C , CM000679.1:g.12899048G>C	GRCh37
NC_000017.9:g.12839773G>C	NCBI36
NG_015808.1:g.27334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1780C>G MANE Select	ENSP00000337445.4:p.Gln594Glu
ENST00000338034.8:c.1780C>G	ENSP00000337445.4:p.Gln594Glu
ENST00000395962.6:c.1723C>G	ENSP00000379291.1:p.Gln575Glu
ENST00000426905.7:c.1660C>G	ENSP00000405223.3:p.Gln554Glu
ENST00000465825.5:n.1667C>G
ENST00000480891.5:n.1609C>G
ENST00000484122.5:n.2610C>G
ENST00000487229.6:n.1326C>G
ENST00000491478.5:n.357C>G
ENST00000492559.5:n.587C>G
ENST00000584650.5:c.1179C>G
NM_001165962.1:c.1660C>G	NP_001159434.1:p.Gln554Glu
NM_018127.6:c.1780C>G	NP_060597.4:p.Gln594Glu
NM_173717.1:c.1777C>G	NP_776065.1:p.Gln593Glu
XM_024450850.1:c.1861C>G	XP_024306618.1:p.Gln621Glu
XM_024450851.1:c.1861C>G	XP_024306619.1:p.Gln621Glu
XM_024450852.1:c.1780C>G	XP_024306620.1:p.Gln594Glu
XM_024450853.1:c.1777C>G	XP_024306621.1:p.Gln593Glu
XM_024450854.1:c.1741C>G	XP_024306622.1:p.Gln581Glu
XM_024450855.1:c.1660C>G	XP_024306623.1:p.Gln554Glu
XM_024450856.1:c.1579C>G	XP_024306624.1:p.Gln527Glu
XM_024450857.1:c.1579C>G	XP_024306625.1:p.Gln527Glu
XM_024450858.1:c.1498C>G	XP_024306626.1:p.Gln500Glu
XM_024450859.1:c.1495C>G	XP_024306627.1:p.Gln499Glu
XM_024450860.1:c.1498C>G	XP_024306628.1:p.Gln500Glu
XM_024450861.1:c.1498C>G	XP_024306629.1:p.Gln500Glu
XM_024450862.1:c.1495C>G	XP_024306630.1:p.Gln499Glu
NM_018127.7:c.1780C>G MANE Select	NP_060597.4:p.Gln594Glu
NM_001165962.2:c.1660C>G	NP_001159434.1:p.Gln554Glu
NM_173717.2:c.1777C>G	NP_776065.1:p.Gln593Glu