Canonical Allele Identifier: CA398222442

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896357G>C (hg19) ; chr17:g.12993040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993040G>C , CM000679.2:g.12993040G>C	GRCh38
NC_000017.10:g.12896357G>C , CM000679.1:g.12896357G>C	GRCh37
NC_000017.9:g.12837082G>C	NCBI36
NG_015808.1:g.30025C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2259C>G MANE Select	ENSP00000337445.4:p.Cys753Trp
ENST00000338034.8:c.2259C>G	ENSP00000337445.4:p.Cys753Trp
ENST00000395962.6:c.2202C>G	ENSP00000379291.1:p.Cys734Trp
ENST00000426905.7:c.2139C>G	ENSP00000405223.3:p.Cys713Trp
ENST00000465825.5:n.2146C>G
ENST00000480891.5:n.2088C>G
ENST00000484122.5:n.3089C>G
ENST00000487229.6:n.1805C>G
ENST00000584650.5:c.1658C>G
NM_001165962.1:c.2139C>G	NP_001159434.1:p.Cys713Trp
NM_018127.6:c.2259C>G	NP_060597.4:p.Cys753Trp
NM_173717.1:c.2256C>G	NP_776065.1:p.Cys752Trp
XM_024450850.1:c.2418C>G	XP_024306618.1:p.Cys806Trp
XM_024450851.1:c.2340C>G	XP_024306619.1:p.Cys780Trp
XM_024450852.1:c.2337C>G	XP_024306620.1:p.Cys779Trp
XM_024450853.1:c.2334C>G	XP_024306621.1:p.Cys778Trp
XM_024450854.1:c.2298C>G	XP_024306622.1:p.Cys766Trp
XM_024450855.1:c.2217C>G	XP_024306623.1:p.Cys739Trp
XM_024450856.1:c.2136C>G	XP_024306624.1:p.Cys712Trp
XM_024450857.1:c.2136C>G	XP_024306625.1:p.Cys712Trp
XM_024450858.1:c.2055C>G	XP_024306626.1:p.Cys685Trp
XM_024450859.1:c.2052C>G	XP_024306627.1:p.Cys684Trp
XM_024450860.1:c.1977C>G	XP_024306628.1:p.Cys659Trp
XM_024450861.1:c.1977C>G	XP_024306629.1:p.Cys659Trp
XM_024450862.1:c.1974C>G	XP_024306630.1:p.Cys658Trp
NM_018127.7:c.2259C>G MANE Select	NP_060597.4:p.Cys753Trp
NM_001165962.2:c.2139C>G	NP_001159434.1:p.Cys713Trp
NM_173717.2:c.2256C>G	NP_776065.1:p.Cys752Trp