Canonical Allele Identifier: CA398222449

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896359A>C (hg19) ; chr17:g.12993042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993042A>C , CM000679.2:g.12993042A>C	GRCh38
NC_000017.10:g.12896359A>C , CM000679.1:g.12896359A>C	GRCh37
NC_000017.9:g.12837084A>C	NCBI36
NG_015808.1:g.30023T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2257T>G MANE Select	ENSP00000337445.4:p.Cys753Gly
ENST00000338034.8:c.2257T>G	ENSP00000337445.4:p.Cys753Gly
ENST00000395962.6:c.2200T>G	ENSP00000379291.1:p.Cys734Gly
ENST00000426905.7:c.2137T>G	ENSP00000405223.3:p.Cys713Gly
ENST00000465825.5:n.2144T>G
ENST00000480891.5:n.2086T>G
ENST00000484122.5:n.3087T>G
ENST00000487229.6:n.1803T>G
ENST00000584650.5:c.1656T>G
NM_001165962.1:c.2137T>G	NP_001159434.1:p.Cys713Gly
NM_018127.6:c.2257T>G	NP_060597.4:p.Cys753Gly
NM_173717.1:c.2254T>G	NP_776065.1:p.Cys752Gly
XM_024450850.1:c.2416T>G	XP_024306618.1:p.Cys806Gly
XM_024450851.1:c.2338T>G	XP_024306619.1:p.Cys780Gly
XM_024450852.1:c.2335T>G	XP_024306620.1:p.Cys779Gly
XM_024450853.1:c.2332T>G	XP_024306621.1:p.Cys778Gly
XM_024450854.1:c.2296T>G	XP_024306622.1:p.Cys766Gly
XM_024450855.1:c.2215T>G	XP_024306623.1:p.Cys739Gly
XM_024450856.1:c.2134T>G	XP_024306624.1:p.Cys712Gly
XM_024450857.1:c.2134T>G	XP_024306625.1:p.Cys712Gly
XM_024450858.1:c.2053T>G	XP_024306626.1:p.Cys685Gly
XM_024450859.1:c.2050T>G	XP_024306627.1:p.Cys684Gly
XM_024450860.1:c.1975T>G	XP_024306628.1:p.Cys659Gly
XM_024450861.1:c.1975T>G	XP_024306629.1:p.Cys659Gly
XM_024450862.1:c.1972T>G	XP_024306630.1:p.Cys658Gly
NM_018127.7:c.2257T>G MANE Select	NP_060597.4:p.Cys753Gly
NM_001165962.2:c.2137T>G	NP_001159434.1:p.Cys713Gly
NM_173717.2:c.2254T>G	NP_776065.1:p.Cys752Gly