Canonical Allele Identifier: CA398221995

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896137A>G (hg19) ; chr17:g.12992820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992820A>G , CM000679.2:g.12992820A>G	GRCh38
NC_000017.10:g.12896137A>G , CM000679.1:g.12896137A>G	GRCh37
NC_000017.9:g.12836862A>G	NCBI36
NG_015808.1:g.30245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2479T>C MANE Select	ENSP00000337445.4:p.Ter827Arg
ENST00000338034.8:c.2479T>C	ENSP00000337445.4:p.Ter827Arg
ENST00000395962.6:c.2422T>C	ENSP00000379291.1:p.Ter808Arg
ENST00000426905.7:c.2359T>C	ENSP00000405223.3:p.Ter787Arg
ENST00000465825.5:n.2366T>C
ENST00000480891.5:n.2308T>C
ENST00000484122.5:n.3309T>C
ENST00000487229.6:n.2025T>C
ENST00000584650.5:c.1878T>C
NM_001165962.1:c.2359T>C	NP_001159434.1:p.Ter787Arg
NM_018127.6:c.2479T>C	NP_060597.4:p.Ter827Arg
NM_173717.1:c.2476T>C	NP_776065.1:p.Ter826Arg
XM_024450850.1:c.2638T>C	XP_024306618.1:p.Ter880Arg
XM_024450851.1:c.2560T>C	XP_024306619.1:p.Ter854Arg
XM_024450852.1:c.2557T>C	XP_024306620.1:p.Ter853Arg
XM_024450853.1:c.2554T>C	XP_024306621.1:p.Ter852Arg
XM_024450854.1:c.2518T>C	XP_024306622.1:p.Ter840Arg
XM_024450855.1:c.2437T>C	XP_024306623.1:p.Ter813Arg
XM_024450856.1:c.2356T>C	XP_024306624.1:p.Ter786Arg
XM_024450857.1:c.2356T>C	XP_024306625.1:p.Ter786Arg
XM_024450858.1:c.2275T>C	XP_024306626.1:p.Ter759Arg
XM_024450859.1:c.2272T>C	XP_024306627.1:p.Ter758Arg
XM_024450860.1:c.2197T>C	XP_024306628.1:p.Ter733Arg
XM_024450861.1:c.2197T>C	XP_024306629.1:p.Ter733Arg
XM_024450862.1:c.2194T>C	XP_024306630.1:p.Ter732Arg
NM_018127.7:c.2479T>C MANE Select	NP_060597.4:p.Ter827Arg
NM_001165962.2:c.2359T>C	NP_001159434.1:p.Ter787Arg
NM_173717.2:c.2476T>C	NP_776065.1:p.Ter826Arg