Canonical Allele Identifier: CA498009578

Gene: ELAC2

Linked Data

• dbSNP Id: rs1339958652
• gnomAD v2: 17-12896180-C-T
• gnomAD v4: 17-12992863-C-T
• MyVariant Identifiers: chr17:g.12896180C>T (hg19) ; chr17:g.12992863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992863C>T , CM000679.2:g.12992863C>T	GRCh38
NC_000017.10:g.12896180C>T , CM000679.1:g.12896180C>T	GRCh37
NC_000017.9:g.12836905C>T	NCBI36
NG_015808.1:g.30202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2436G>A MANE Select	ENSP00000337445.4:p.Arg812=
ENST00000338034.8:c.2436G>A	ENSP00000337445.4:p.Arg812=
ENST00000395962.6:c.2379G>A	ENSP00000379291.1:p.Arg793=
ENST00000426905.7:c.2316G>A	ENSP00000405223.3:p.Arg772=
ENST00000465825.5:n.2323G>A
ENST00000480891.5:n.2265G>A
ENST00000484122.5:n.3266G>A
ENST00000487229.6:n.1982G>A
ENST00000584650.5:c.1835G>A
NM_001165962.1:c.2316G>A	NP_001159434.1:p.Arg772=
NM_018127.6:c.2436G>A	NP_060597.4:p.Arg812=
NM_173717.1:c.2433G>A	NP_776065.1:p.Arg811=
XM_024450850.1:c.2595G>A	XP_024306618.1:p.Arg865=
XM_024450851.1:c.2517G>A	XP_024306619.1:p.Arg839=
XM_024450852.1:c.2514G>A	XP_024306620.1:p.Arg838=
XM_024450853.1:c.2511G>A	XP_024306621.1:p.Arg837=
XM_024450854.1:c.2475G>A	XP_024306622.1:p.Arg825=
XM_024450855.1:c.2394G>A	XP_024306623.1:p.Arg798=
XM_024450856.1:c.2313G>A	XP_024306624.1:p.Arg771=
XM_024450857.1:c.2313G>A	XP_024306625.1:p.Arg771=
XM_024450858.1:c.2232G>A	XP_024306626.1:p.Arg744=
XM_024450859.1:c.2229G>A	XP_024306627.1:p.Arg743=
XM_024450860.1:c.2154G>A	XP_024306628.1:p.Arg718=
XM_024450861.1:c.2154G>A	XP_024306629.1:p.Arg718=
XM_024450862.1:c.2151G>A	XP_024306630.1:p.Arg717=
NM_018127.7:c.2436G>A MANE Select	NP_060597.4:p.Arg812=
NM_001165962.2:c.2316G>A	NP_001159434.1:p.Arg772=
NM_173717.2:c.2433G>A	NP_776065.1:p.Arg811=