Canonical Allele Identifier: CA398222447

Gene: ELAC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2257T>A MANE Select	ENSP00000337445.4:p.Cys753Ser
ENST00000338034.8:c.2257T>A	ENSP00000337445.4:p.Cys753Ser
ENST00000395962.6:c.2200T>A	ENSP00000379291.1:p.Cys734Ser
ENST00000426905.7:c.2137T>A	ENSP00000405223.3:p.Cys713Ser
ENST00000465825.5:n.2144T>A
ENST00000480891.5:n.2086T>A
ENST00000484122.5:n.3087T>A
ENST00000487229.6:n.1803T>A
ENST00000584650.5:c.1656T>A
NM_001165962.1:c.2137T>A	NP_001159434.1:p.Cys713Ser
NM_018127.6:c.2257T>A	NP_060597.4:p.Cys753Ser
NM_173717.1:c.2254T>A	NP_776065.1:p.Cys752Ser
XM_024450850.1:c.2416T>A	XP_024306618.1:p.Cys806Ser
XM_024450851.1:c.2338T>A	XP_024306619.1:p.Cys780Ser
XM_024450852.1:c.2335T>A	XP_024306620.1:p.Cys779Ser
XM_024450853.1:c.2332T>A	XP_024306621.1:p.Cys778Ser
XM_024450854.1:c.2296T>A	XP_024306622.1:p.Cys766Ser
XM_024450855.1:c.2215T>A	XP_024306623.1:p.Cys739Ser
XM_024450856.1:c.2134T>A	XP_024306624.1:p.Cys712Ser
XM_024450857.1:c.2134T>A	XP_024306625.1:p.Cys712Ser
XM_024450858.1:c.2053T>A	XP_024306626.1:p.Cys685Ser
XM_024450859.1:c.2050T>A	XP_024306627.1:p.Cys684Ser
XM_024450860.1:c.1975T>A	XP_024306628.1:p.Cys659Ser
XM_024450861.1:c.1975T>A	XP_024306629.1:p.Cys659Ser
XM_024450862.1:c.1972T>A	XP_024306630.1:p.Cys658Ser
NM_018127.7:c.2257T>A MANE Select	NP_060597.4:p.Cys753Ser
NM_001165962.2:c.2137T>A	NP_001159434.1:p.Cys713Ser
NM_173717.2:c.2254T>A	NP_776065.1:p.Cys752Ser