Canonical Allele Identifier: CA398222217

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896248C>G (hg19) ; chr17:g.12992931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992931C>G , CM000679.2:g.12992931C>G	GRCh38
NC_000017.10:g.12896248C>G , CM000679.1:g.12896248C>G	GRCh37
NC_000017.9:g.12836973C>G	NCBI36
NG_015808.1:g.30134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2368G>C MANE Select	ENSP00000337445.4:p.Val790Leu
ENST00000338034.8:c.2368G>C	ENSP00000337445.4:p.Val790Leu
ENST00000395962.6:c.2311G>C	ENSP00000379291.1:p.Val771Leu
ENST00000426905.7:c.2248G>C	ENSP00000405223.3:p.Val750Leu
ENST00000465825.5:n.2255G>C
ENST00000480891.5:n.2197G>C
ENST00000484122.5:n.3198G>C
ENST00000487229.6:n.1914G>C
ENST00000584650.5:c.1767G>C
NM_001165962.1:c.2248G>C	NP_001159434.1:p.Val750Leu
NM_018127.6:c.2368G>C	NP_060597.4:p.Val790Leu
NM_173717.1:c.2365G>C	NP_776065.1:p.Val789Leu
XM_024450850.1:c.2527G>C	XP_024306618.1:p.Val843Leu
XM_024450851.1:c.2449G>C	XP_024306619.1:p.Val817Leu
XM_024450852.1:c.2446G>C	XP_024306620.1:p.Val816Leu
XM_024450853.1:c.2443G>C	XP_024306621.1:p.Val815Leu
XM_024450854.1:c.2407G>C	XP_024306622.1:p.Val803Leu
XM_024450855.1:c.2326G>C	XP_024306623.1:p.Val776Leu
XM_024450856.1:c.2245G>C	XP_024306624.1:p.Val749Leu
XM_024450857.1:c.2245G>C	XP_024306625.1:p.Val749Leu
XM_024450858.1:c.2164G>C	XP_024306626.1:p.Val722Leu
XM_024450859.1:c.2161G>C	XP_024306627.1:p.Val721Leu
XM_024450860.1:c.2086G>C	XP_024306628.1:p.Val696Leu
XM_024450861.1:c.2086G>C	XP_024306629.1:p.Val696Leu
XM_024450862.1:c.2083G>C	XP_024306630.1:p.Val695Leu
NM_018127.7:c.2368G>C MANE Select	NP_060597.4:p.Val790Leu
NM_001165962.2:c.2248G>C	NP_001159434.1:p.Val750Leu
NM_173717.2:c.2365G>C	NP_776065.1:p.Val789Leu