Canonical Allele Identifier: CA398222134

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896202T>A (hg19) ; chr17:g.12992885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992885T>A , CM000679.2:g.12992885T>A	GRCh38
NC_000017.10:g.12896202T>A , CM000679.1:g.12896202T>A	GRCh37
NC_000017.9:g.12836927T>A	NCBI36
NG_015808.1:g.30180A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2414A>T MANE Select	ENSP00000337445.4:p.Asp805Val
ENST00000338034.8:c.2414A>T	ENSP00000337445.4:p.Asp805Val
ENST00000395962.6:c.2357A>T	ENSP00000379291.1:p.Asp786Val
ENST00000426905.7:c.2294A>T	ENSP00000405223.3:p.Asp765Val
ENST00000465825.5:n.2301A>T
ENST00000480891.5:n.2243A>T
ENST00000484122.5:n.3244A>T
ENST00000487229.6:n.1960A>T
ENST00000584650.5:c.1813A>T
NM_001165962.1:c.2294A>T	NP_001159434.1:p.Asp765Val
NM_018127.6:c.2414A>T	NP_060597.4:p.Asp805Val
NM_173717.1:c.2411A>T	NP_776065.1:p.Asp804Val
XM_024450850.1:c.2573A>T	XP_024306618.1:p.Asp858Val
XM_024450851.1:c.2495A>T	XP_024306619.1:p.Asp832Val
XM_024450852.1:c.2492A>T	XP_024306620.1:p.Asp831Val
XM_024450853.1:c.2489A>T	XP_024306621.1:p.Asp830Val
XM_024450854.1:c.2453A>T	XP_024306622.1:p.Asp818Val
XM_024450855.1:c.2372A>T	XP_024306623.1:p.Asp791Val
XM_024450856.1:c.2291A>T	XP_024306624.1:p.Asp764Val
XM_024450857.1:c.2291A>T	XP_024306625.1:p.Asp764Val
XM_024450858.1:c.2210A>T	XP_024306626.1:p.Asp737Val
XM_024450859.1:c.2207A>T	XP_024306627.1:p.Asp736Val
XM_024450860.1:c.2132A>T	XP_024306628.1:p.Asp711Val
XM_024450861.1:c.2132A>T	XP_024306629.1:p.Asp711Val
XM_024450862.1:c.2129A>T	XP_024306630.1:p.Asp710Val
NM_018127.7:c.2414A>T MANE Select	NP_060597.4:p.Asp805Val
NM_001165962.2:c.2294A>T	NP_001159434.1:p.Asp765Val
NM_173717.2:c.2411A>T	NP_776065.1:p.Asp804Val