Canonical Allele Identifier: CA398222200

Gene: ELAC2

Linked Data

• dbSNP Id: rs1186070275
• gnomAD v4: 17-12992919-G-T
• COSMIC: COSM4652816
• MyVariant Identifiers: chr17:g.12896236G>T (hg19) ; chr17:g.12992919G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992919G>T , CM000679.2:g.12992919G>T	GRCh38
NC_000017.10:g.12896236G>T , CM000679.1:g.12896236G>T	GRCh37
NC_000017.9:g.12836961G>T	NCBI36
NG_015808.1:g.30146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2380C>A MANE Select	ENSP00000337445.4:p.Leu794Ile
ENST00000338034.8:c.2380C>A	ENSP00000337445.4:p.Leu794Ile
ENST00000395962.6:c.2323C>A	ENSP00000379291.1:p.Leu775Ile
ENST00000426905.7:c.2260C>A	ENSP00000405223.3:p.Leu754Ile
ENST00000465825.5:n.2267C>A
ENST00000480891.5:n.2209C>A
ENST00000484122.5:n.3210C>A
ENST00000487229.6:n.1926C>A
ENST00000584650.5:c.1779C>A
NM_001165962.1:c.2260C>A	NP_001159434.1:p.Leu754Ile
NM_018127.6:c.2380C>A	NP_060597.4:p.Leu794Ile
NM_173717.1:c.2377C>A	NP_776065.1:p.Leu793Ile
XM_024450850.1:c.2539C>A	XP_024306618.1:p.Leu847Ile
XM_024450851.1:c.2461C>A	XP_024306619.1:p.Leu821Ile
XM_024450852.1:c.2458C>A	XP_024306620.1:p.Leu820Ile
XM_024450853.1:c.2455C>A	XP_024306621.1:p.Leu819Ile
XM_024450854.1:c.2419C>A	XP_024306622.1:p.Leu807Ile
XM_024450855.1:c.2338C>A	XP_024306623.1:p.Leu780Ile
XM_024450856.1:c.2257C>A	XP_024306624.1:p.Leu753Ile
XM_024450857.1:c.2257C>A	XP_024306625.1:p.Leu753Ile
XM_024450858.1:c.2176C>A	XP_024306626.1:p.Leu726Ile
XM_024450859.1:c.2173C>A	XP_024306627.1:p.Leu725Ile
XM_024450860.1:c.2098C>A	XP_024306628.1:p.Leu700Ile
XM_024450861.1:c.2098C>A	XP_024306629.1:p.Leu700Ile
XM_024450862.1:c.2095C>A	XP_024306630.1:p.Leu699Ile
NM_018127.7:c.2380C>A MANE Select	NP_060597.4:p.Leu794Ile
NM_001165962.2:c.2260C>A	NP_001159434.1:p.Leu754Ile
NM_173717.2:c.2377C>A	NP_776065.1:p.Leu793Ile