Canonical Allele Identifier: CA498009664

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992989-C-T
• MyVariant Identifiers: chr17:g.12896306C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992989C>T , CM000679.2:g.12992989C>T	GRCh38
NC_000017.10:g.12896306C>T , CM000679.1:g.12896306C>T	GRCh37
NC_000017.9:g.12837031C>T	NCBI36
NG_015808.1:g.30076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2310G>A MANE Select	ENSP00000337445.4:p.Leu770=
ENST00000338034.8:c.2310G>A	ENSP00000337445.4:p.Leu770=
ENST00000395962.6:c.2253G>A	ENSP00000379291.1:p.Leu751=
ENST00000426905.7:c.2190G>A	ENSP00000405223.3:p.Leu730=
ENST00000465825.5:n.2197G>A
ENST00000480891.5:n.2139G>A
ENST00000484122.5:n.3140G>A
ENST00000487229.6:n.1856G>A
ENST00000584650.5:c.1709G>A
NM_001165962.1:c.2190G>A	NP_001159434.1:p.Leu730=
NM_018127.6:c.2310G>A	NP_060597.4:p.Leu770=
NM_173717.1:c.2307G>A	NP_776065.1:p.Leu769=
XM_024450850.1:c.2469G>A	XP_024306618.1:p.Leu823=
XM_024450851.1:c.2391G>A	XP_024306619.1:p.Leu797=
XM_024450852.1:c.2388G>A	XP_024306620.1:p.Leu796=
XM_024450853.1:c.2385G>A	XP_024306621.1:p.Leu795=
XM_024450854.1:c.2349G>A	XP_024306622.1:p.Leu783=
XM_024450855.1:c.2268G>A	XP_024306623.1:p.Leu756=
XM_024450856.1:c.2187G>A	XP_024306624.1:p.Leu729=
XM_024450857.1:c.2187G>A	XP_024306625.1:p.Leu729=
XM_024450858.1:c.2106G>A	XP_024306626.1:p.Leu702=
XM_024450859.1:c.2103G>A	XP_024306627.1:p.Leu701=
XM_024450860.1:c.2028G>A	XP_024306628.1:p.Leu676=
XM_024450861.1:c.2028G>A	XP_024306629.1:p.Leu676=
XM_024450862.1:c.2025G>A	XP_024306630.1:p.Leu675=
NM_018127.7:c.2310G>A MANE Select	NP_060597.4:p.Leu770=
NM_001165962.2:c.2190G>A	NP_001159434.1:p.Leu730=
NM_173717.2:c.2307G>A	NP_776065.1:p.Leu769=