Canonical Allele Identifier: CA498009611

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896233G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992916G>A , CM000679.2:g.12992916G>A	GRCh38
NC_000017.10:g.12896233G>A , CM000679.1:g.12896233G>A	GRCh37
NC_000017.9:g.12836958G>A	NCBI36
NG_015808.1:g.30149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2383C>T MANE Select	ENSP00000337445.4:p.Leu795=
ENST00000338034.8:c.2383C>T	ENSP00000337445.4:p.Leu795=
ENST00000395962.6:c.2326C>T	ENSP00000379291.1:p.Leu776=
ENST00000426905.7:c.2263C>T	ENSP00000405223.3:p.Leu755=
ENST00000465825.5:n.2270C>T
ENST00000480891.5:n.2212C>T
ENST00000484122.5:n.3213C>T
ENST00000487229.6:n.1929C>T
ENST00000584650.5:c.1782C>T
NM_001165962.1:c.2263C>T	NP_001159434.1:p.Leu755=
NM_018127.6:c.2383C>T	NP_060597.4:p.Leu795=
NM_173717.1:c.2380C>T	NP_776065.1:p.Leu794=
XM_024450850.1:c.2542C>T	XP_024306618.1:p.Leu848=
XM_024450851.1:c.2464C>T	XP_024306619.1:p.Leu822=
XM_024450852.1:c.2461C>T	XP_024306620.1:p.Leu821=
XM_024450853.1:c.2458C>T	XP_024306621.1:p.Leu820=
XM_024450854.1:c.2422C>T	XP_024306622.1:p.Leu808=
XM_024450855.1:c.2341C>T	XP_024306623.1:p.Leu781=
XM_024450856.1:c.2260C>T	XP_024306624.1:p.Leu754=
XM_024450857.1:c.2260C>T	XP_024306625.1:p.Leu754=
XM_024450858.1:c.2179C>T	XP_024306626.1:p.Leu727=
XM_024450859.1:c.2176C>T	XP_024306627.1:p.Leu726=
XM_024450860.1:c.2101C>T	XP_024306628.1:p.Leu701=
XM_024450861.1:c.2101C>T	XP_024306629.1:p.Leu701=
XM_024450862.1:c.2098C>T	XP_024306630.1:p.Leu700=
NM_018127.7:c.2383C>T MANE Select	NP_060597.4:p.Leu795=
NM_001165962.2:c.2263C>T	NP_001159434.1:p.Leu755=
NM_173717.2:c.2380C>T	NP_776065.1:p.Leu794=