Canonical Allele Identifier: CA398222445
Gene: ELAC2 HGNC NCBI

Linked Data

dbSNP Id: rs1463121565

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12993041C>G , CM000679.2:g.12993041C>G GRCh38
NC_000017.10:g.12896358C>G , CM000679.1:g.12896358C>G GRCh37
NC_000017.9:g.12837083C>G NCBI36
NG_015808.1:g.30024G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2258G>C MANE Select ENSP00000337445.4:p.Cys753Ser
ENST00000338034.8:c.2258G>C ENSP00000337445.4:p.Cys753Ser
ENST00000395962.6:c.2201G>C ENSP00000379291.1:p.Cys734Ser
ENST00000426905.7:c.2138G>C ENSP00000405223.3:p.Cys713Ser
ENST00000465825.5:n.2145G>C
ENST00000480891.5:n.2087G>C
ENST00000484122.5:n.3088G>C
ENST00000487229.6:n.1804G>C
ENST00000584650.5:c.1657G>C
NM_001165962.1:c.2138G>C NP_001159434.1:p.Cys713Ser
NM_018127.6:c.2258G>C NP_060597.4:p.Cys753Ser
NM_173717.1:c.2255G>C NP_776065.1:p.Cys752Ser
XM_024450850.1:c.2417G>C XP_024306618.1:p.Cys806Ser
XM_024450851.1:c.2339G>C XP_024306619.1:p.Cys780Ser
XM_024450852.1:c.2336G>C XP_024306620.1:p.Cys779Ser
XM_024450853.1:c.2333G>C XP_024306621.1:p.Cys778Ser
XM_024450854.1:c.2297G>C XP_024306622.1:p.Cys766Ser
XM_024450855.1:c.2216G>C XP_024306623.1:p.Cys739Ser
XM_024450856.1:c.2135G>C XP_024306624.1:p.Cys712Ser
XM_024450857.1:c.2135G>C XP_024306625.1:p.Cys712Ser
XM_024450858.1:c.2054G>C XP_024306626.1:p.Cys685Ser
XM_024450859.1:c.2051G>C XP_024306627.1:p.Cys684Ser
XM_024450860.1:c.1976G>C XP_024306628.1:p.Cys659Ser
XM_024450861.1:c.1976G>C XP_024306629.1:p.Cys659Ser
XM_024450862.1:c.1973G>C XP_024306630.1:p.Cys658Ser
NM_018127.7:c.2258G>C MANE Select NP_060597.4:p.Cys753Ser
NM_001165962.2:c.2138G>C NP_001159434.1:p.Cys713Ser
NM_173717.2:c.2255G>C NP_776065.1:p.Cys752Ser