Canonical Allele Identifier: CA8400838

Gene: ELAC2

Linked Data

• dbSNP Id: rs761410635
• ExAC: 17:12896309 G / A
• gnomAD v2: 17-12896309-G-A
• gnomAD v4: 17-12992992-G-A
• MyVariant Identifiers: chr17:g.12896309G>A (hg19) ; chr17:g.12992992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992992G>A , CM000679.2:g.12992992G>A	GRCh38
NC_000017.10:g.12896309G>A , CM000679.1:g.12896309G>A	GRCh37
NC_000017.9:g.12837034G>A	NCBI36
NG_015808.1:g.30073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2307C>T MANE Select	ENSP00000337445.4:p.Ala769=
ENST00000338034.8:c.2307C>T	ENSP00000337445.4:p.Ala769=
ENST00000395962.6:c.2250C>T	ENSP00000379291.1:p.Ala750=
ENST00000426905.7:c.2187C>T	ENSP00000405223.3:p.Ala729=
ENST00000465825.5:n.2194C>T
ENST00000480891.5:n.2136C>T
ENST00000484122.5:n.3137C>T
ENST00000487229.6:n.1853C>T
ENST00000584650.5:c.1706C>T
NM_001165962.1:c.2187C>T	NP_001159434.1:p.Ala729=
NM_018127.6:c.2307C>T	NP_060597.4:p.Ala769=
NM_173717.1:c.2304C>T	NP_776065.1:p.Ala768=
XM_024450850.1:c.2466C>T	XP_024306618.1:p.Ala822=
XM_024450851.1:c.2388C>T	XP_024306619.1:p.Ala796=
XM_024450852.1:c.2385C>T	XP_024306620.1:p.Ala795=
XM_024450853.1:c.2382C>T	XP_024306621.1:p.Ala794=
XM_024450854.1:c.2346C>T	XP_024306622.1:p.Ala782=
XM_024450855.1:c.2265C>T	XP_024306623.1:p.Ala755=
XM_024450856.1:c.2184C>T	XP_024306624.1:p.Ala728=
XM_024450857.1:c.2184C>T	XP_024306625.1:p.Ala728=
XM_024450858.1:c.2103C>T	XP_024306626.1:p.Ala701=
XM_024450859.1:c.2100C>T	XP_024306627.1:p.Ala700=
XM_024450860.1:c.2025C>T	XP_024306628.1:p.Ala675=
XM_024450861.1:c.2025C>T	XP_024306629.1:p.Ala675=
XM_024450862.1:c.2022C>T	XP_024306630.1:p.Ala674=
NM_018127.7:c.2307C>T MANE Select	NP_060597.4:p.Ala769=
NM_001165962.2:c.2187C>T	NP_001159434.1:p.Ala729=
NM_173717.2:c.2304C>T	NP_776065.1:p.Ala768=