Canonical Allele Identifier: CA398222112

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992874-G-T
• MyVariant Identifiers: chr17:g.12896191G>T (hg19) ; chr17:g.12992874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992874G>T , CM000679.2:g.12992874G>T	GRCh38
NC_000017.10:g.12896191G>T , CM000679.1:g.12896191G>T	GRCh37
NC_000017.9:g.12836916G>T	NCBI36
NG_015808.1:g.30191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2425C>A MANE Select	ENSP00000337445.4:p.Gln809Lys
ENST00000338034.8:c.2425C>A	ENSP00000337445.4:p.Gln809Lys
ENST00000395962.6:c.2368C>A	ENSP00000379291.1:p.Gln790Lys
ENST00000426905.7:c.2305C>A	ENSP00000405223.3:p.Gln769Lys
ENST00000465825.5:n.2312C>A
ENST00000480891.5:n.2254C>A
ENST00000484122.5:n.3255C>A
ENST00000487229.6:n.1971C>A
ENST00000584650.5:c.1824C>A
NM_001165962.1:c.2305C>A	NP_001159434.1:p.Gln769Lys
NM_018127.6:c.2425C>A	NP_060597.4:p.Gln809Lys
NM_173717.1:c.2422C>A	NP_776065.1:p.Gln808Lys
XM_024450850.1:c.2584C>A	XP_024306618.1:p.Gln862Lys
XM_024450851.1:c.2506C>A	XP_024306619.1:p.Gln836Lys
XM_024450852.1:c.2503C>A	XP_024306620.1:p.Gln835Lys
XM_024450853.1:c.2500C>A	XP_024306621.1:p.Gln834Lys
XM_024450854.1:c.2464C>A	XP_024306622.1:p.Gln822Lys
XM_024450855.1:c.2383C>A	XP_024306623.1:p.Gln795Lys
XM_024450856.1:c.2302C>A	XP_024306624.1:p.Gln768Lys
XM_024450857.1:c.2302C>A	XP_024306625.1:p.Gln768Lys
XM_024450858.1:c.2221C>A	XP_024306626.1:p.Gln741Lys
XM_024450859.1:c.2218C>A	XP_024306627.1:p.Gln740Lys
XM_024450860.1:c.2143C>A	XP_024306628.1:p.Gln715Lys
XM_024450861.1:c.2143C>A	XP_024306629.1:p.Gln715Lys
XM_024450862.1:c.2140C>A	XP_024306630.1:p.Gln714Lys
NM_018127.7:c.2425C>A MANE Select	NP_060597.4:p.Gln809Lys
NM_001165962.2:c.2305C>A	NP_001159434.1:p.Gln769Lys
NM_173717.2:c.2422C>A	NP_776065.1:p.Gln808Lys