Canonical Allele Identifier: CA498009656

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896294G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992977G>A , CM000679.2:g.12992977G>A	GRCh38
NC_000017.10:g.12896294G>A , CM000679.1:g.12896294G>A	GRCh37
NC_000017.9:g.12837019G>A	NCBI36
NG_015808.1:g.30088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2322C>T MANE Select	ENSP00000337445.4:p.Asp774=
ENST00000338034.8:c.2322C>T	ENSP00000337445.4:p.Asp774=
ENST00000395962.6:c.2265C>T	ENSP00000379291.1:p.Asp755=
ENST00000426905.7:c.2202C>T	ENSP00000405223.3:p.Asp734=
ENST00000465825.5:n.2209C>T
ENST00000480891.5:n.2151C>T
ENST00000484122.5:n.3152C>T
ENST00000487229.6:n.1868C>T
ENST00000584650.5:c.1721C>T
NM_001165962.1:c.2202C>T	NP_001159434.1:p.Asp734=
NM_018127.6:c.2322C>T	NP_060597.4:p.Asp774=
NM_173717.1:c.2319C>T	NP_776065.1:p.Asp773=
XM_024450850.1:c.2481C>T	XP_024306618.1:p.Asp827=
XM_024450851.1:c.2403C>T	XP_024306619.1:p.Asp801=
XM_024450852.1:c.2400C>T	XP_024306620.1:p.Asp800=
XM_024450853.1:c.2397C>T	XP_024306621.1:p.Asp799=
XM_024450854.1:c.2361C>T	XP_024306622.1:p.Asp787=
XM_024450855.1:c.2280C>T	XP_024306623.1:p.Asp760=
XM_024450856.1:c.2199C>T	XP_024306624.1:p.Asp733=
XM_024450857.1:c.2199C>T	XP_024306625.1:p.Asp733=
XM_024450858.1:c.2118C>T	XP_024306626.1:p.Asp706=
XM_024450859.1:c.2115C>T	XP_024306627.1:p.Asp705=
XM_024450860.1:c.2040C>T	XP_024306628.1:p.Asp680=
XM_024450861.1:c.2040C>T	XP_024306629.1:p.Asp680=
XM_024450862.1:c.2037C>T	XP_024306630.1:p.Asp679=
NM_018127.7:c.2322C>T MANE Select	NP_060597.4:p.Asp774=
NM_001165962.2:c.2202C>T	NP_001159434.1:p.Asp734=
NM_173717.2:c.2319C>T	NP_776065.1:p.Asp773=