Canonical Allele Identifier: CA498009640

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992950-C-T
• MyVariant Identifiers: chr17:g.12896267C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992950C>T , CM000679.2:g.12992950C>T	GRCh38
NC_000017.10:g.12896267C>T , CM000679.1:g.12896267C>T	GRCh37
NC_000017.9:g.12836992C>T	NCBI36
NG_015808.1:g.30115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2349G>A MANE Select	ENSP00000337445.4:p.Glu783=
ENST00000338034.8:c.2349G>A	ENSP00000337445.4:p.Glu783=
ENST00000395962.6:c.2292G>A	ENSP00000379291.1:p.Glu764=
ENST00000426905.7:c.2229G>A	ENSP00000405223.3:p.Glu743=
ENST00000465825.5:n.2236G>A
ENST00000480891.5:n.2178G>A
ENST00000484122.5:n.3179G>A
ENST00000487229.6:n.1895G>A
ENST00000584650.5:c.1748G>A
NM_001165962.1:c.2229G>A	NP_001159434.1:p.Glu743=
NM_018127.6:c.2349G>A	NP_060597.4:p.Glu783=
NM_173717.1:c.2346G>A	NP_776065.1:p.Glu782=
XM_024450850.1:c.2508G>A	XP_024306618.1:p.Glu836=
XM_024450851.1:c.2430G>A	XP_024306619.1:p.Glu810=
XM_024450852.1:c.2427G>A	XP_024306620.1:p.Glu809=
XM_024450853.1:c.2424G>A	XP_024306621.1:p.Glu808=
XM_024450854.1:c.2388G>A	XP_024306622.1:p.Glu796=
XM_024450855.1:c.2307G>A	XP_024306623.1:p.Glu769=
XM_024450856.1:c.2226G>A	XP_024306624.1:p.Glu742=
XM_024450857.1:c.2226G>A	XP_024306625.1:p.Glu742=
XM_024450858.1:c.2145G>A	XP_024306626.1:p.Glu715=
XM_024450859.1:c.2142G>A	XP_024306627.1:p.Glu714=
XM_024450860.1:c.2067G>A	XP_024306628.1:p.Glu689=
XM_024450861.1:c.2067G>A	XP_024306629.1:p.Glu689=
XM_024450862.1:c.2064G>A	XP_024306630.1:p.Glu688=
NM_018127.7:c.2349G>A MANE Select	NP_060597.4:p.Glu783=
NM_001165962.2:c.2229G>A	NP_001159434.1:p.Glu743=
NM_173717.2:c.2346G>A	NP_776065.1:p.Glu782=