Canonical Allele Identifier: CA498009639

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896264C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992947C>T , CM000679.2:g.12992947C>T	GRCh38
NC_000017.10:g.12896264C>T , CM000679.1:g.12896264C>T	GRCh37
NC_000017.9:g.12836989C>T	NCBI36
NG_015808.1:g.30118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2352G>A MANE Select	ENSP00000337445.4:p.Lys784=
ENST00000338034.8:c.2352G>A	ENSP00000337445.4:p.Lys784=
ENST00000395962.6:c.2295G>A	ENSP00000379291.1:p.Lys765=
ENST00000426905.7:c.2232G>A	ENSP00000405223.3:p.Lys744=
ENST00000465825.5:n.2239G>A
ENST00000480891.5:n.2181G>A
ENST00000484122.5:n.3182G>A
ENST00000487229.6:n.1898G>A
ENST00000584650.5:c.1751G>A
NM_001165962.1:c.2232G>A	NP_001159434.1:p.Lys744=
NM_018127.6:c.2352G>A	NP_060597.4:p.Lys784=
NM_173717.1:c.2349G>A	NP_776065.1:p.Lys783=
XM_024450850.1:c.2511G>A	XP_024306618.1:p.Lys837=
XM_024450851.1:c.2433G>A	XP_024306619.1:p.Lys811=
XM_024450852.1:c.2430G>A	XP_024306620.1:p.Lys810=
XM_024450853.1:c.2427G>A	XP_024306621.1:p.Lys809=
XM_024450854.1:c.2391G>A	XP_024306622.1:p.Lys797=
XM_024450855.1:c.2310G>A	XP_024306623.1:p.Lys770=
XM_024450856.1:c.2229G>A	XP_024306624.1:p.Lys743=
XM_024450857.1:c.2229G>A	XP_024306625.1:p.Lys743=
XM_024450858.1:c.2148G>A	XP_024306626.1:p.Lys716=
XM_024450859.1:c.2145G>A	XP_024306627.1:p.Lys715=
XM_024450860.1:c.2070G>A	XP_024306628.1:p.Lys690=
XM_024450861.1:c.2070G>A	XP_024306629.1:p.Lys690=
XM_024450862.1:c.2067G>A	XP_024306630.1:p.Lys689=
NM_018127.7:c.2352G>A MANE Select	NP_060597.4:p.Lys784=
NM_001165962.2:c.2232G>A	NP_001159434.1:p.Lys744=
NM_173717.2:c.2349G>A	NP_776065.1:p.Lys783=