Canonical Allele Identifier: CA8400804

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 241277
• ClinVar RCV Id: RCV000231288
• dbSNP Id: rs147779718
• ExAC: 17:12896212 C / T
• gnomAD v2: 17-12896212-C-T
• gnomAD v3: 17-12992895-C-T
• gnomAD v4: 17-12992895-C-T
• COSMIC: COSM4064030
• MyVariant Identifiers: chr17:g.12896212C>T (hg19) ; chr17:g.12992895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992895C>T , CM000679.2:g.12992895C>T	GRCh38
NC_000017.10:g.12896212C>T , CM000679.1:g.12896212C>T	GRCh37
NC_000017.9:g.12836937C>T	NCBI36
NG_015808.1:g.30170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2404G>A MANE Select	ENSP00000337445.4:p.Gly802Ser
ENST00000338034.8:c.2404G>A	ENSP00000337445.4:p.Gly802Ser
ENST00000395962.6:c.2347G>A	ENSP00000379291.1:p.Gly783Ser
ENST00000426905.7:c.2284G>A	ENSP00000405223.3:p.Gly762Ser
ENST00000465825.5:n.2291G>A
ENST00000480891.5:n.2233G>A
ENST00000484122.5:n.3234G>A
ENST00000487229.6:n.1950G>A
ENST00000584650.5:c.1803G>A
NM_001165962.1:c.2284G>A	NP_001159434.1:p.Gly762Ser
NM_018127.6:c.2404G>A	NP_060597.4:p.Gly802Ser
NM_173717.1:c.2401G>A	NP_776065.1:p.Gly801Ser
XM_024450850.1:c.2563G>A	XP_024306618.1:p.Gly855Ser
XM_024450851.1:c.2485G>A	XP_024306619.1:p.Gly829Ser
XM_024450852.1:c.2482G>A	XP_024306620.1:p.Gly828Ser
XM_024450853.1:c.2479G>A	XP_024306621.1:p.Gly827Ser
XM_024450854.1:c.2443G>A	XP_024306622.1:p.Gly815Ser
XM_024450855.1:c.2362G>A	XP_024306623.1:p.Gly788Ser
XM_024450856.1:c.2281G>A	XP_024306624.1:p.Gly761Ser
XM_024450857.1:c.2281G>A	XP_024306625.1:p.Gly761Ser
XM_024450858.1:c.2200G>A	XP_024306626.1:p.Gly734Ser
XM_024450859.1:c.2197G>A	XP_024306627.1:p.Gly733Ser
XM_024450860.1:c.2122G>A	XP_024306628.1:p.Gly708Ser
XM_024450861.1:c.2122G>A	XP_024306629.1:p.Gly708Ser
XM_024450862.1:c.2119G>A	XP_024306630.1:p.Gly707Ser
NM_018127.7:c.2404G>A MANE Select	NP_060597.4:p.Gly802Ser
NM_001165962.2:c.2284G>A	NP_001159434.1:p.Gly762Ser
NM_173717.2:c.2401G>A	NP_776065.1:p.Gly801Ser