Canonical Allele Identifier: CA398222085

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992861-G-C
• MyVariant Identifiers: chr17:g.12896178G>C (hg19) ; chr17:g.12992861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992861G>C , CM000679.2:g.12992861G>C	GRCh38
NC_000017.10:g.12896178G>C , CM000679.1:g.12896178G>C	GRCh37
NC_000017.9:g.12836903G>C	NCBI36
NG_015808.1:g.30204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2438C>G MANE Select	ENSP00000337445.4:p.Ala813Gly
ENST00000338034.8:c.2438C>G	ENSP00000337445.4:p.Ala813Gly
ENST00000395962.6:c.2381C>G	ENSP00000379291.1:p.Ala794Gly
ENST00000426905.7:c.2318C>G	ENSP00000405223.3:p.Ala773Gly
ENST00000465825.5:n.2325C>G
ENST00000480891.5:n.2267C>G
ENST00000484122.5:n.3268C>G
ENST00000487229.6:n.1984C>G
ENST00000584650.5:c.1837C>G
NM_001165962.1:c.2318C>G	NP_001159434.1:p.Ala773Gly
NM_018127.6:c.2438C>G	NP_060597.4:p.Ala813Gly
NM_173717.1:c.2435C>G	NP_776065.1:p.Ala812Gly
XM_024450850.1:c.2597C>G	XP_024306618.1:p.Ala866Gly
XM_024450851.1:c.2519C>G	XP_024306619.1:p.Ala840Gly
XM_024450852.1:c.2516C>G	XP_024306620.1:p.Ala839Gly
XM_024450853.1:c.2513C>G	XP_024306621.1:p.Ala838Gly
XM_024450854.1:c.2477C>G	XP_024306622.1:p.Ala826Gly
XM_024450855.1:c.2396C>G	XP_024306623.1:p.Ala799Gly
XM_024450856.1:c.2315C>G	XP_024306624.1:p.Ala772Gly
XM_024450857.1:c.2315C>G	XP_024306625.1:p.Ala772Gly
XM_024450858.1:c.2234C>G	XP_024306626.1:p.Ala745Gly
XM_024450859.1:c.2231C>G	XP_024306627.1:p.Ala744Gly
XM_024450860.1:c.2156C>G	XP_024306628.1:p.Ala719Gly
XM_024450861.1:c.2156C>G	XP_024306629.1:p.Ala719Gly
XM_024450862.1:c.2153C>G	XP_024306630.1:p.Ala718Gly
NM_018127.7:c.2438C>G MANE Select	NP_060597.4:p.Ala813Gly
NM_001165962.2:c.2318C>G	NP_001159434.1:p.Ala773Gly
NM_173717.2:c.2435C>G	NP_776065.1:p.Ala812Gly