Canonical Allele Identifier: CA8400819

Gene: ELAC2

Linked Data

• dbSNP Id: rs749996506
• ExAC: 17:12896254 G / A
• gnomAD v2: 17-12896254-G-A
• gnomAD v3: 17-12992937-G-A
• gnomAD v4: 17-12992937-G-A
• MyVariant Identifiers: chr17:g.12896254G>A (hg19) ; chr17:g.12992937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992937G>A , CM000679.2:g.12992937G>A	GRCh38
NC_000017.10:g.12896254G>A , CM000679.1:g.12896254G>A	GRCh37
NC_000017.9:g.12836979G>A	NCBI36
NG_015808.1:g.30128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2362C>T MANE Select	ENSP00000337445.4:p.Arg788Trp
ENST00000338034.8:c.2362C>T	ENSP00000337445.4:p.Arg788Trp
ENST00000395962.6:c.2305C>T	ENSP00000379291.1:p.Arg769Trp
ENST00000426905.7:c.2242C>T	ENSP00000405223.3:p.Arg748Trp
ENST00000465825.5:n.2249C>T
ENST00000480891.5:n.2191C>T
ENST00000484122.5:n.3192C>T
ENST00000487229.6:n.1908C>T
ENST00000584650.5:c.1761C>T
NM_001165962.1:c.2242C>T	NP_001159434.1:p.Arg748Trp
NM_018127.6:c.2362C>T	NP_060597.4:p.Arg788Trp
NM_173717.1:c.2359C>T	NP_776065.1:p.Arg787Trp
XM_024450850.1:c.2521C>T	XP_024306618.1:p.Arg841Trp
XM_024450851.1:c.2443C>T	XP_024306619.1:p.Arg815Trp
XM_024450852.1:c.2440C>T	XP_024306620.1:p.Arg814Trp
XM_024450853.1:c.2437C>T	XP_024306621.1:p.Arg813Trp
XM_024450854.1:c.2401C>T	XP_024306622.1:p.Arg801Trp
XM_024450855.1:c.2320C>T	XP_024306623.1:p.Arg774Trp
XM_024450856.1:c.2239C>T	XP_024306624.1:p.Arg747Trp
XM_024450857.1:c.2239C>T	XP_024306625.1:p.Arg747Trp
XM_024450858.1:c.2158C>T	XP_024306626.1:p.Arg720Trp
XM_024450859.1:c.2155C>T	XP_024306627.1:p.Arg719Trp
XM_024450860.1:c.2080C>T	XP_024306628.1:p.Arg694Trp
XM_024450861.1:c.2080C>T	XP_024306629.1:p.Arg694Trp
XM_024450862.1:c.2077C>T	XP_024306630.1:p.Arg693Trp
NM_018127.7:c.2362C>T MANE Select	NP_060597.4:p.Arg788Trp
NM_001165962.2:c.2242C>T	NP_001159434.1:p.Arg748Trp
NM_173717.2:c.2359C>T	NP_776065.1:p.Arg787Trp