Canonical Allele Identifier: CA398221993

Gene: ELAC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2479T>G MANE Select	ENSP00000337445.4:p.Ter827Gly
ENST00000338034.8:c.2479T>G	ENSP00000337445.4:p.Ter827Gly
ENST00000395962.6:c.2422T>G	ENSP00000379291.1:p.Ter808Gly
ENST00000426905.7:c.2359T>G	ENSP00000405223.3:p.Ter787Gly
ENST00000465825.5:n.2366T>G
ENST00000480891.5:n.2308T>G
ENST00000484122.5:n.3309T>G
ENST00000487229.6:n.2025T>G
ENST00000584650.5:c.1878T>G
NM_001165962.1:c.2359T>G	NP_001159434.1:p.Ter787Gly
NM_018127.6:c.2479T>G	NP_060597.4:p.Ter827Gly
NM_173717.1:c.2476T>G	NP_776065.1:p.Ter826Gly
XM_024450850.1:c.2638T>G	XP_024306618.1:p.Ter880Gly
XM_024450851.1:c.2560T>G	XP_024306619.1:p.Ter854Gly
XM_024450852.1:c.2557T>G	XP_024306620.1:p.Ter853Gly
XM_024450853.1:c.2554T>G	XP_024306621.1:p.Ter852Gly
XM_024450854.1:c.2518T>G	XP_024306622.1:p.Ter840Gly
XM_024450855.1:c.2437T>G	XP_024306623.1:p.Ter813Gly
XM_024450856.1:c.2356T>G	XP_024306624.1:p.Ter786Gly
XM_024450857.1:c.2356T>G	XP_024306625.1:p.Ter786Gly
XM_024450858.1:c.2275T>G	XP_024306626.1:p.Ter759Gly
XM_024450859.1:c.2272T>G	XP_024306627.1:p.Ter758Gly
XM_024450860.1:c.2197T>G	XP_024306628.1:p.Ter733Gly
XM_024450861.1:c.2197T>G	XP_024306629.1:p.Ter733Gly
XM_024450862.1:c.2194T>G	XP_024306630.1:p.Ter732Gly
NM_018127.7:c.2479T>G MANE Select	NP_060597.4:p.Ter827Gly
NM_001165962.2:c.2359T>G	NP_001159434.1:p.Ter787Gly
NM_173717.2:c.2476T>G	NP_776065.1:p.Ter826Gly