Canonical Allele Identifier: CA398222286

Gene: ELAC2

Linked Data

• dbSNP Id: rs1267381964
• gnomAD v3: 17-12992965-C-T
• gnomAD v4: 17-12992965-C-T
• MyVariant Identifiers: chr17:g.12896282C>T (hg19) ; chr17:g.12992965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992965C>T , CM000679.2:g.12992965C>T	GRCh38
NC_000017.10:g.12896282C>T , CM000679.1:g.12896282C>T	GRCh37
NC_000017.9:g.12837007C>T	NCBI36
NG_015808.1:g.30100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2334G>A MANE Select	ENSP00000337445.4:p.Met778Ile
ENST00000338034.8:c.2334G>A	ENSP00000337445.4:p.Met778Ile
ENST00000395962.6:c.2277G>A	ENSP00000379291.1:p.Met759Ile
ENST00000426905.7:c.2214G>A	ENSP00000405223.3:p.Met738Ile
ENST00000465825.5:n.2221G>A
ENST00000480891.5:n.2163G>A
ENST00000484122.5:n.3164G>A
ENST00000487229.6:n.1880G>A
ENST00000584650.5:c.1733G>A
NM_001165962.1:c.2214G>A	NP_001159434.1:p.Met738Ile
NM_018127.6:c.2334G>A	NP_060597.4:p.Met778Ile
NM_173717.1:c.2331G>A	NP_776065.1:p.Met777Ile
XM_024450850.1:c.2493G>A	XP_024306618.1:p.Met831Ile
XM_024450851.1:c.2415G>A	XP_024306619.1:p.Met805Ile
XM_024450852.1:c.2412G>A	XP_024306620.1:p.Met804Ile
XM_024450853.1:c.2409G>A	XP_024306621.1:p.Met803Ile
XM_024450854.1:c.2373G>A	XP_024306622.1:p.Met791Ile
XM_024450855.1:c.2292G>A	XP_024306623.1:p.Met764Ile
XM_024450856.1:c.2211G>A	XP_024306624.1:p.Met737Ile
XM_024450857.1:c.2211G>A	XP_024306625.1:p.Met737Ile
XM_024450858.1:c.2130G>A	XP_024306626.1:p.Met710Ile
XM_024450859.1:c.2127G>A	XP_024306627.1:p.Met709Ile
XM_024450860.1:c.2052G>A	XP_024306628.1:p.Met684Ile
XM_024450861.1:c.2052G>A	XP_024306629.1:p.Met684Ile
XM_024450862.1:c.2049G>A	XP_024306630.1:p.Met683Ile
NM_018127.7:c.2334G>A MANE Select	NP_060597.4:p.Met778Ile
NM_001165962.2:c.2214G>A	NP_001159434.1:p.Met738Ile
NM_173717.2:c.2331G>A	NP_776065.1:p.Met777Ile