Canonical Allele Identifier: CA398222271

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992960-T-C
• MyVariant Identifiers: chr17:g.12896277T>C (hg19) ; chr17:g.12992960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992960T>C , CM000679.2:g.12992960T>C	GRCh38
NC_000017.10:g.12896277T>C , CM000679.1:g.12896277T>C	GRCh37
NC_000017.9:g.12837002T>C	NCBI36
NG_015808.1:g.30105A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.2339A>G MANE Select	ENSP00000337445.4:p.Glu780Gly
ENST00000338034.8:c.2339A>G	ENSP00000337445.4:p.Glu780Gly
ENST00000395962.6:c.2282A>G	ENSP00000379291.1:p.Glu761Gly
ENST00000426905.7:c.2219A>G	ENSP00000405223.3:p.Glu740Gly
ENST00000465825.5:n.2226A>G
ENST00000480891.5:n.2168A>G
ENST00000484122.5:n.3169A>G
ENST00000487229.6:n.1885A>G
ENST00000584650.5:c.1738A>G
NM_001165962.1:c.2219A>G	NP_001159434.1:p.Glu740Gly
NM_018127.6:c.2339A>G	NP_060597.4:p.Glu780Gly
NM_173717.1:c.2336A>G	NP_776065.1:p.Glu779Gly
XM_024450850.1:c.2498A>G	XP_024306618.1:p.Glu833Gly
XM_024450851.1:c.2420A>G	XP_024306619.1:p.Glu807Gly
XM_024450852.1:c.2417A>G	XP_024306620.1:p.Glu806Gly
XM_024450853.1:c.2414A>G	XP_024306621.1:p.Glu805Gly
XM_024450854.1:c.2378A>G	XP_024306622.1:p.Glu793Gly
XM_024450855.1:c.2297A>G	XP_024306623.1:p.Glu766Gly
XM_024450856.1:c.2216A>G	XP_024306624.1:p.Glu739Gly
XM_024450857.1:c.2216A>G	XP_024306625.1:p.Glu739Gly
XM_024450858.1:c.2135A>G	XP_024306626.1:p.Glu712Gly
XM_024450859.1:c.2132A>G	XP_024306627.1:p.Glu711Gly
XM_024450860.1:c.2057A>G	XP_024306628.1:p.Glu686Gly
XM_024450861.1:c.2057A>G	XP_024306629.1:p.Glu686Gly
XM_024450862.1:c.2054A>G	XP_024306630.1:p.Glu685Gly
NM_018127.7:c.2339A>G MANE Select	NP_060597.4:p.Glu780Gly
NM_001165962.2:c.2219A>G	NP_001159434.1:p.Glu740Gly
NM_173717.2:c.2336A>G	NP_776065.1:p.Glu779Gly