Canonical Allele Identifier: CA2576177848

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992777A>G , CM000679.2:g.12992777A>G	GRCh38
NC_000017.10:g.12896094A>G , CM000679.1:g.12896094A>G	GRCh37
NC_000017.9:g.12836819A>G	NCBI36
NG_015808.1:g.30288T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.*41T>C MANE Select	ENSP00000337445.4:n.*41T>C
ENST00000338034.8:c.*41T>C	ENSP00000337445.4:n.*41T>C
ENST00000395962.6:c.*41T>C	ENSP00000379291.1:n.*41T>C
ENST00000426905.7:c.*41T>C	ENSP00000405223.3:n.*41T>C
ENST00000465825.5:n.2409T>C
ENST00000480891.5:n.2351T>C
ENST00000484122.5:n.3352T>C
ENST00000487229.6:n.2068T>C
ENST00000584650.5:c.1921T>C
NM_001165962.1:c.*41T>C	NP_001159434.1:n.*41T>C
NM_018127.6:c.*41T>C	NP_060597.4:n.*41T>C
NM_173717.1:c.*41T>C	NP_776065.1:n.*41T>C
XM_024450850.1:c.*41T>C	XP_024306618.1:n.*41T>C
XM_024450851.1:c.*41T>C	XP_024306619.1:n.*41T>C
XM_024450852.1:c.*41T>C	XP_024306620.1:n.*41T>C
XM_024450853.1:c.*41T>C	XP_024306621.1:n.*41T>C
XM_024450854.1:c.*41T>C	XP_024306622.1:n.*41T>C
XM_024450855.1:c.*41T>C	XP_024306623.1:n.*41T>C
XM_024450856.1:c.*41T>C	XP_024306624.1:n.*41T>C
XM_024450857.1:c.*41T>C	XP_024306625.1:n.*41T>C
XM_024450858.1:c.*41T>C	XP_024306626.1:n.*41T>C
XM_024450859.1:c.*41T>C	XP_024306627.1:n.*41T>C
XM_024450860.1:c.*41T>C	XP_024306628.1:n.*41T>C
XM_024450861.1:c.*41T>C	XP_024306629.1:n.*41T>C
XM_024450862.1:c.*41T>C	XP_024306630.1:n.*41T>C
NM_018127.7:c.*41T>C MANE Select	NP_060597.4:n.*41T>C
NM_001165962.2:c.*41T>C	NP_001159434.1:n.*41T>C
NM_173717.2:c.*41T>C	NP_776065.1:n.*41T>C