Canonical Allele Identifier: CA498009556

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896147G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992830G>A , CM000679.2:g.12992830G>A	GRCh38
NC_000017.10:g.12896147G>A , CM000679.1:g.12896147G>A	GRCh37
NC_000017.9:g.12836872G>A	NCBI36
NG_015808.1:g.30235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2469C>T MANE Select	ENSP00000337445.4:p.Val823=
ENST00000338034.8:c.2469C>T	ENSP00000337445.4:p.Val823=
ENST00000395962.6:c.2412C>T	ENSP00000379291.1:p.Val804=
ENST00000426905.7:c.2349C>T	ENSP00000405223.3:p.Val783=
ENST00000465825.5:n.2356C>T
ENST00000480891.5:n.2298C>T
ENST00000484122.5:n.3299C>T
ENST00000487229.6:n.2015C>T
ENST00000584650.5:c.1868C>T
NM_001165962.1:c.2349C>T	NP_001159434.1:p.Val783=
NM_018127.6:c.2469C>T	NP_060597.4:p.Val823=
NM_173717.1:c.2466C>T	NP_776065.1:p.Val822=
XM_024450850.1:c.2628C>T	XP_024306618.1:p.Val876=
XM_024450851.1:c.2550C>T	XP_024306619.1:p.Val850=
XM_024450852.1:c.2547C>T	XP_024306620.1:p.Val849=
XM_024450853.1:c.2544C>T	XP_024306621.1:p.Val848=
XM_024450854.1:c.2508C>T	XP_024306622.1:p.Val836=
XM_024450855.1:c.2427C>T	XP_024306623.1:p.Val809=
XM_024450856.1:c.2346C>T	XP_024306624.1:p.Val782=
XM_024450857.1:c.2346C>T	XP_024306625.1:p.Val782=
XM_024450858.1:c.2265C>T	XP_024306626.1:p.Val755=
XM_024450859.1:c.2262C>T	XP_024306627.1:p.Val754=
XM_024450860.1:c.2187C>T	XP_024306628.1:p.Val729=
XM_024450861.1:c.2187C>T	XP_024306629.1:p.Val729=
XM_024450862.1:c.2184C>T	XP_024306630.1:p.Val728=
NM_018127.7:c.2469C>T MANE Select	NP_060597.4:p.Val823=
NM_001165962.2:c.2349C>T	NP_001159434.1:p.Val783=
NM_173717.2:c.2466C>T	NP_776065.1:p.Val822=