Canonical Allele Identifier: CA398222353

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896314T>A (hg19) ; chr17:g.12992997T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992997T>A , CM000679.2:g.12992997T>A	GRCh38
NC_000017.10:g.12896314T>A , CM000679.1:g.12896314T>A	GRCh37
NC_000017.9:g.12837039T>A	NCBI36
NG_015808.1:g.30068A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2302A>T MANE Select	ENSP00000337445.4:p.Lys768Ter
ENST00000338034.8:c.2302A>T	ENSP00000337445.4:p.Lys768Ter
ENST00000395962.6:c.2245A>T	ENSP00000379291.1:p.Lys749Ter
ENST00000426905.7:c.2182A>T	ENSP00000405223.3:p.Lys728Ter
ENST00000465825.5:n.2189A>T
ENST00000480891.5:n.2131A>T
ENST00000484122.5:n.3132A>T
ENST00000487229.6:n.1848A>T
ENST00000584650.5:c.1701A>T
NM_001165962.1:c.2182A>T	NP_001159434.1:p.Lys728Ter
NM_018127.6:c.2302A>T	NP_060597.4:p.Lys768Ter
NM_173717.1:c.2299A>T	NP_776065.1:p.Lys767Ter
XM_024450850.1:c.2461A>T	XP_024306618.1:p.Lys821Ter
XM_024450851.1:c.2383A>T	XP_024306619.1:p.Lys795Ter
XM_024450852.1:c.2380A>T	XP_024306620.1:p.Lys794Ter
XM_024450853.1:c.2377A>T	XP_024306621.1:p.Lys793Ter
XM_024450854.1:c.2341A>T	XP_024306622.1:p.Lys781Ter
XM_024450855.1:c.2260A>T	XP_024306623.1:p.Lys754Ter
XM_024450856.1:c.2179A>T	XP_024306624.1:p.Lys727Ter
XM_024450857.1:c.2179A>T	XP_024306625.1:p.Lys727Ter
XM_024450858.1:c.2098A>T	XP_024306626.1:p.Lys700Ter
XM_024450859.1:c.2095A>T	XP_024306627.1:p.Lys699Ter
XM_024450860.1:c.2020A>T	XP_024306628.1:p.Lys674Ter
XM_024450861.1:c.2020A>T	XP_024306629.1:p.Lys674Ter
XM_024450862.1:c.2017A>T	XP_024306630.1:p.Lys673Ter
NM_018127.7:c.2302A>T MANE Select	NP_060597.4:p.Lys768Ter
NM_001165962.2:c.2182A>T	NP_001159434.1:p.Lys728Ter
NM_173717.2:c.2299A>T	NP_776065.1:p.Lys767Ter