Canonical Allele Identifier: CA117232

Gene: ELAC2

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13011692G>A , CM000679.2:g.13011692G>A	GRCh38
NC_000017.10:g.12915009G>A , CM000679.1:g.12915009G>A	GRCh37
NC_000017.9:g.12855734G>A	NCBI36
NG_015808.1:g.11373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.650C>T MANE Select	ENSP00000337445.4:p.Ser217Leu
ENST00000338034.8:c.650C>T	ENSP00000337445.4:p.Ser217Leu
ENST00000395962.6:c.593C>T	ENSP00000379291.1:p.Ser198Leu
ENST00000426905.7:c.560-1021C>T	ENSP00000405223.3:n.560-1021C>T
ENST00000484122.5:n.912C>T
ENST00000580504.5:c.278-1021C>T	ENSP00000463594.1:n.278-1021C>T
ENST00000581499.6:c.368C>T	ENSP00000463321.2:p.Ser123Leu
ENST00000584650.5:c.124C>T
ENST00000609101.5:c.368C>T	ENSP00000477044.1:p.Ser123Leu
ENST00000609345.1:n.447C>T
ENST00000609757.5:c.368C>T	ENSP00000477093.1:p.Ser123Leu
NM_001165962.1:c.560-1021C>T	NP_001159434.1:n.560-1021C>T
NM_018127.6:c.650C>T	NP_060597.4:p.Ser217Leu
NM_173717.1:c.650C>T	NP_776065.1:p.Ser217Leu
XM_024450850.1:c.650C>T	XP_024306618.1:p.Ser217Leu
XM_024450851.1:c.650C>T	XP_024306619.1:p.Ser217Leu
XM_024450852.1:c.650C>T	XP_024306620.1:p.Ser217Leu
XM_024450853.1:c.650C>T	XP_024306621.1:p.Ser217Leu
XM_024450854.1:c.560-1021C>T	XP_024306622.1:n.560-1021C>T
XM_024450855.1:c.560-1021C>T	XP_024306623.1:n.560-1021C>T
XM_024450856.1:c.368C>T	XP_024306624.1:p.Ser123Leu
XM_024450857.1:c.368C>T	XP_024306625.1:p.Ser123Leu
XM_024450858.1:c.368C>T	XP_024306626.1:p.Ser123Leu
XM_024450859.1:c.368C>T	XP_024306627.1:p.Ser123Leu
XM_024450860.1:c.368C>T	XP_024306628.1:p.Ser123Leu
XM_024450861.1:c.368C>T	XP_024306629.1:p.Ser123Leu
XM_024450862.1:c.368C>T	XP_024306630.1:p.Ser123Leu
NM_018127.7:c.650C>T MANE Select	NP_060597.4:p.Ser217Leu
NM_001165962.2:c.560-1021C>T	NP_001159434.1:n.560-1021C>T
NM_173717.2:c.650C>T	NP_776065.1:p.Ser217Leu