Canonical Allele Identifier: CA8400830

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 837141
• ClinVar RCV Id: RCV001038416
• dbSNP Id: rs774664159
• ExAC: 17:12896283 A / G
• gnomAD v2: 17-12896283-A-G
• gnomAD v3: 17-12992966-A-G
• gnomAD v4: 17-12992966-A-G
• MyVariant Identifiers: chr17:g.12896283A>G (hg19) ; chr17:g.12992966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992966A>G , CM000679.2:g.12992966A>G	GRCh38
NC_000017.10:g.12896283A>G , CM000679.1:g.12896283A>G	GRCh37
NC_000017.9:g.12837008A>G	NCBI36
NG_015808.1:g.30099T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.2333T>C MANE Select	ENSP00000337445.4:p.Met778Thr
ENST00000338034.8:c.2333T>C	ENSP00000337445.4:p.Met778Thr
ENST00000395962.6:c.2276T>C	ENSP00000379291.1:p.Met759Thr
ENST00000426905.7:c.2213T>C	ENSP00000405223.3:p.Met738Thr
ENST00000465825.5:n.2220T>C
ENST00000480891.5:n.2162T>C
ENST00000484122.5:n.3163T>C
ENST00000487229.6:n.1879T>C
ENST00000584650.5:c.1732T>C
NM_001165962.1:c.2213T>C	NP_001159434.1:p.Met738Thr
NM_018127.6:c.2333T>C	NP_060597.4:p.Met778Thr
NM_173717.1:c.2330T>C	NP_776065.1:p.Met777Thr
XM_024450850.1:c.2492T>C	XP_024306618.1:p.Met831Thr
XM_024450851.1:c.2414T>C	XP_024306619.1:p.Met805Thr
XM_024450852.1:c.2411T>C	XP_024306620.1:p.Met804Thr
XM_024450853.1:c.2408T>C	XP_024306621.1:p.Met803Thr
XM_024450854.1:c.2372T>C	XP_024306622.1:p.Met791Thr
XM_024450855.1:c.2291T>C	XP_024306623.1:p.Met764Thr
XM_024450856.1:c.2210T>C	XP_024306624.1:p.Met737Thr
XM_024450857.1:c.2210T>C	XP_024306625.1:p.Met737Thr
XM_024450858.1:c.2129T>C	XP_024306626.1:p.Met710Thr
XM_024450859.1:c.2126T>C	XP_024306627.1:p.Met709Thr
XM_024450860.1:c.2051T>C	XP_024306628.1:p.Met684Thr
XM_024450861.1:c.2051T>C	XP_024306629.1:p.Met684Thr
XM_024450862.1:c.2048T>C	XP_024306630.1:p.Met683Thr
NM_018127.7:c.2333T>C MANE Select	NP_060597.4:p.Met778Thr
NM_001165962.2:c.2213T>C	NP_001159434.1:p.Met738Thr
NM_173717.2:c.2330T>C	NP_776065.1:p.Met777Thr