Canonical Allele Identifier: CA498009655

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896291G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992974G>T , CM000679.2:g.12992974G>T	GRCh38
NC_000017.10:g.12896291G>T , CM000679.1:g.12896291G>T	GRCh37
NC_000017.9:g.12837016G>T	NCBI36
NG_015808.1:g.30091C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2325C>A MANE Select	ENSP00000337445.4:p.Ile775=
ENST00000338034.8:c.2325C>A	ENSP00000337445.4:p.Ile775=
ENST00000395962.6:c.2268C>A	ENSP00000379291.1:p.Ile756=
ENST00000426905.7:c.2205C>A	ENSP00000405223.3:p.Ile735=
ENST00000465825.5:n.2212C>A
ENST00000480891.5:n.2154C>A
ENST00000484122.5:n.3155C>A
ENST00000487229.6:n.1871C>A
ENST00000584650.5:c.1724C>A
NM_001165962.1:c.2205C>A	NP_001159434.1:p.Ile735=
NM_018127.6:c.2325C>A	NP_060597.4:p.Ile775=
NM_173717.1:c.2322C>A	NP_776065.1:p.Ile774=
XM_024450850.1:c.2484C>A	XP_024306618.1:p.Ile828=
XM_024450851.1:c.2406C>A	XP_024306619.1:p.Ile802=
XM_024450852.1:c.2403C>A	XP_024306620.1:p.Ile801=
XM_024450853.1:c.2400C>A	XP_024306621.1:p.Ile800=
XM_024450854.1:c.2364C>A	XP_024306622.1:p.Ile788=
XM_024450855.1:c.2283C>A	XP_024306623.1:p.Ile761=
XM_024450856.1:c.2202C>A	XP_024306624.1:p.Ile734=
XM_024450857.1:c.2202C>A	XP_024306625.1:p.Ile734=
XM_024450858.1:c.2121C>A	XP_024306626.1:p.Ile707=
XM_024450859.1:c.2118C>A	XP_024306627.1:p.Ile706=
XM_024450860.1:c.2043C>A	XP_024306628.1:p.Ile681=
XM_024450861.1:c.2043C>A	XP_024306629.1:p.Ile681=
XM_024450862.1:c.2040C>A	XP_024306630.1:p.Ile680=
NM_018127.7:c.2325C>A MANE Select	NP_060597.4:p.Ile775=
NM_001165962.2:c.2205C>A	NP_001159434.1:p.Ile735=
NM_173717.2:c.2322C>A	NP_776065.1:p.Ile774=