Canonical Allele Identifier: CA398222332

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896304A>C (hg19) ; chr17:g.12992987A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992987A>C , CM000679.2:g.12992987A>C	GRCh38
NC_000017.10:g.12896304A>C , CM000679.1:g.12896304A>C	GRCh37
NC_000017.9:g.12837029A>C	NCBI36
NG_015808.1:g.30078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2312T>G MANE Select	ENSP00000337445.4:p.Phe771Cys
ENST00000338034.8:c.2312T>G	ENSP00000337445.4:p.Phe771Cys
ENST00000395962.6:c.2255T>G	ENSP00000379291.1:p.Phe752Cys
ENST00000426905.7:c.2192T>G	ENSP00000405223.3:p.Phe731Cys
ENST00000465825.5:n.2199T>G
ENST00000480891.5:n.2141T>G
ENST00000484122.5:n.3142T>G
ENST00000487229.6:n.1858T>G
ENST00000584650.5:c.1711T>G
NM_001165962.1:c.2192T>G	NP_001159434.1:p.Phe731Cys
NM_018127.6:c.2312T>G	NP_060597.4:p.Phe771Cys
NM_173717.1:c.2309T>G	NP_776065.1:p.Phe770Cys
XM_024450850.1:c.2471T>G	XP_024306618.1:p.Phe824Cys
XM_024450851.1:c.2393T>G	XP_024306619.1:p.Phe798Cys
XM_024450852.1:c.2390T>G	XP_024306620.1:p.Phe797Cys
XM_024450853.1:c.2387T>G	XP_024306621.1:p.Phe796Cys
XM_024450854.1:c.2351T>G	XP_024306622.1:p.Phe784Cys
XM_024450855.1:c.2270T>G	XP_024306623.1:p.Phe757Cys
XM_024450856.1:c.2189T>G	XP_024306624.1:p.Phe730Cys
XM_024450857.1:c.2189T>G	XP_024306625.1:p.Phe730Cys
XM_024450858.1:c.2108T>G	XP_024306626.1:p.Phe703Cys
XM_024450859.1:c.2105T>G	XP_024306627.1:p.Phe702Cys
XM_024450860.1:c.2030T>G	XP_024306628.1:p.Phe677Cys
XM_024450861.1:c.2030T>G	XP_024306629.1:p.Phe677Cys
XM_024450862.1:c.2027T>G	XP_024306630.1:p.Phe676Cys
NM_018127.7:c.2312T>G MANE Select	NP_060597.4:p.Phe771Cys
NM_001165962.2:c.2192T>G	NP_001159434.1:p.Phe731Cys
NM_173717.2:c.2309T>G	NP_776065.1:p.Phe770Cys