Canonical Allele Identifier: CA398221991

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896136C>A (hg19) ; chr17:g.12992819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992819C>A , CM000679.2:g.12992819C>A	GRCh38
NC_000017.10:g.12896136C>A , CM000679.1:g.12896136C>A	GRCh37
NC_000017.9:g.12836861C>A	NCBI36
NG_015808.1:g.30246G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2480G>T MANE Select	ENSP00000337445.4:p.Ter827Leu
ENST00000338034.8:c.2480G>T	ENSP00000337445.4:p.Ter827Leu
ENST00000395962.6:c.2423G>T	ENSP00000379291.1:p.Ter808Leu
ENST00000426905.7:c.2360G>T	ENSP00000405223.3:p.Ter787Leu
ENST00000465825.5:n.2367G>T
ENST00000480891.5:n.2309G>T
ENST00000484122.5:n.3310G>T
ENST00000487229.6:n.2026G>T
ENST00000584650.5:c.1879G>T
NM_001165962.1:c.2360G>T	NP_001159434.1:p.Ter787Leu
NM_018127.6:c.2480G>T	NP_060597.4:p.Ter827Leu
NM_173717.1:c.2477G>T	NP_776065.1:p.Ter826Leu
XM_024450850.1:c.2639G>T	XP_024306618.1:p.Ter880Leu
XM_024450851.1:c.2561G>T	XP_024306619.1:p.Ter854Leu
XM_024450852.1:c.2558G>T	XP_024306620.1:p.Ter853Leu
XM_024450853.1:c.2555G>T	XP_024306621.1:p.Ter852Leu
XM_024450854.1:c.2519G>T	XP_024306622.1:p.Ter840Leu
XM_024450855.1:c.2438G>T	XP_024306623.1:p.Ter813Leu
XM_024450856.1:c.2357G>T	XP_024306624.1:p.Ter786Leu
XM_024450857.1:c.2357G>T	XP_024306625.1:p.Ter786Leu
XM_024450858.1:c.2276G>T	XP_024306626.1:p.Ter759Leu
XM_024450859.1:c.2273G>T	XP_024306627.1:p.Ter758Leu
XM_024450860.1:c.2198G>T	XP_024306628.1:p.Ter733Leu
XM_024450861.1:c.2198G>T	XP_024306629.1:p.Ter733Leu
XM_024450862.1:c.2195G>T	XP_024306630.1:p.Ter732Leu
NM_018127.7:c.2480G>T MANE Select	NP_060597.4:p.Ter827Leu
NM_001165962.2:c.2360G>T	NP_001159434.1:p.Ter787Leu
NM_173717.2:c.2477G>T	NP_776065.1:p.Ter826Leu