Canonical Allele Identifier: CA398222342

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896310G>A (hg19) ; chr17:g.12992993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992993G>A , CM000679.2:g.12992993G>A	GRCh38
NC_000017.10:g.12896310G>A , CM000679.1:g.12896310G>A	GRCh37
NC_000017.9:g.12837035G>A	NCBI36
NG_015808.1:g.30072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2306C>T MANE Select	ENSP00000337445.4:p.Ala769Val
ENST00000338034.8:c.2306C>T	ENSP00000337445.4:p.Ala769Val
ENST00000395962.6:c.2249C>T	ENSP00000379291.1:p.Ala750Val
ENST00000426905.7:c.2186C>T	ENSP00000405223.3:p.Ala729Val
ENST00000465825.5:n.2193C>T
ENST00000480891.5:n.2135C>T
ENST00000484122.5:n.3136C>T
ENST00000487229.6:n.1852C>T
ENST00000584650.5:c.1705C>T
NM_001165962.1:c.2186C>T	NP_001159434.1:p.Ala729Val
NM_018127.6:c.2306C>T	NP_060597.4:p.Ala769Val
NM_173717.1:c.2303C>T	NP_776065.1:p.Ala768Val
XM_024450850.1:c.2465C>T	XP_024306618.1:p.Ala822Val
XM_024450851.1:c.2387C>T	XP_024306619.1:p.Ala796Val
XM_024450852.1:c.2384C>T	XP_024306620.1:p.Ala795Val
XM_024450853.1:c.2381C>T	XP_024306621.1:p.Ala794Val
XM_024450854.1:c.2345C>T	XP_024306622.1:p.Ala782Val
XM_024450855.1:c.2264C>T	XP_024306623.1:p.Ala755Val
XM_024450856.1:c.2183C>T	XP_024306624.1:p.Ala728Val
XM_024450857.1:c.2183C>T	XP_024306625.1:p.Ala728Val
XM_024450858.1:c.2102C>T	XP_024306626.1:p.Ala701Val
XM_024450859.1:c.2099C>T	XP_024306627.1:p.Ala700Val
XM_024450860.1:c.2024C>T	XP_024306628.1:p.Ala675Val
XM_024450861.1:c.2024C>T	XP_024306629.1:p.Ala675Val
XM_024450862.1:c.2021C>T	XP_024306630.1:p.Ala674Val
NM_018127.7:c.2306C>T MANE Select	NP_060597.4:p.Ala769Val
NM_001165962.2:c.2186C>T	NP_001159434.1:p.Ala729Val
NM_173717.2:c.2303C>T	NP_776065.1:p.Ala768Val