Canonical Allele Identifier: CA398222119

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896194G>T (hg19) ; chr17:g.12992877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992877G>T , CM000679.2:g.12992877G>T	GRCh38
NC_000017.10:g.12896194G>T , CM000679.1:g.12896194G>T	GRCh37
NC_000017.9:g.12836919G>T	NCBI36
NG_015808.1:g.30188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2422C>A MANE Select	ENSP00000337445.4:p.Pro808Thr
ENST00000338034.8:c.2422C>A	ENSP00000337445.4:p.Pro808Thr
ENST00000395962.6:c.2365C>A	ENSP00000379291.1:p.Pro789Thr
ENST00000426905.7:c.2302C>A	ENSP00000405223.3:p.Pro768Thr
ENST00000465825.5:n.2309C>A
ENST00000480891.5:n.2251C>A
ENST00000484122.5:n.3252C>A
ENST00000487229.6:n.1968C>A
ENST00000584650.5:c.1821C>A
NM_001165962.1:c.2302C>A	NP_001159434.1:p.Pro768Thr
NM_018127.6:c.2422C>A	NP_060597.4:p.Pro808Thr
NM_173717.1:c.2419C>A	NP_776065.1:p.Pro807Thr
XM_024450850.1:c.2581C>A	XP_024306618.1:p.Pro861Thr
XM_024450851.1:c.2503C>A	XP_024306619.1:p.Pro835Thr
XM_024450852.1:c.2500C>A	XP_024306620.1:p.Pro834Thr
XM_024450853.1:c.2497C>A	XP_024306621.1:p.Pro833Thr
XM_024450854.1:c.2461C>A	XP_024306622.1:p.Pro821Thr
XM_024450855.1:c.2380C>A	XP_024306623.1:p.Pro794Thr
XM_024450856.1:c.2299C>A	XP_024306624.1:p.Pro767Thr
XM_024450857.1:c.2299C>A	XP_024306625.1:p.Pro767Thr
XM_024450858.1:c.2218C>A	XP_024306626.1:p.Pro740Thr
XM_024450859.1:c.2215C>A	XP_024306627.1:p.Pro739Thr
XM_024450860.1:c.2140C>A	XP_024306628.1:p.Pro714Thr
XM_024450861.1:c.2140C>A	XP_024306629.1:p.Pro714Thr
XM_024450862.1:c.2137C>A	XP_024306630.1:p.Pro713Thr
NM_018127.7:c.2422C>A MANE Select	NP_060597.4:p.Pro808Thr
NM_001165962.2:c.2302C>A	NP_001159434.1:p.Pro768Thr
NM_173717.2:c.2419C>A	NP_776065.1:p.Pro807Thr