Canonical Allele Identifier: CA398222186

Gene: ELAC2

Linked Data

• dbSNP Id: rs1262515538
• MyVariant Identifiers: chr17:g.12896229G>C (hg19) ; chr17:g.12992912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992912G>C , CM000679.2:g.12992912G>C	GRCh38
NC_000017.10:g.12896229G>C , CM000679.1:g.12896229G>C	GRCh37
NC_000017.9:g.12836954G>C	NCBI36
NG_015808.1:g.30153C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2387C>G MANE Select	ENSP00000337445.4:p.Ser796Cys
ENST00000338034.8:c.2387C>G	ENSP00000337445.4:p.Ser796Cys
ENST00000395962.6:c.2330C>G	ENSP00000379291.1:p.Ser777Cys
ENST00000426905.7:c.2267C>G	ENSP00000405223.3:p.Ser756Cys
ENST00000465825.5:n.2274C>G
ENST00000480891.5:n.2216C>G
ENST00000484122.5:n.3217C>G
ENST00000487229.6:n.1933C>G
ENST00000584650.5:c.1786C>G
NM_001165962.1:c.2267C>G	NP_001159434.1:p.Ser756Cys
NM_018127.6:c.2387C>G	NP_060597.4:p.Ser796Cys
NM_173717.1:c.2384C>G	NP_776065.1:p.Ser795Cys
XM_024450850.1:c.2546C>G	XP_024306618.1:p.Ser849Cys
XM_024450851.1:c.2468C>G	XP_024306619.1:p.Ser823Cys
XM_024450852.1:c.2465C>G	XP_024306620.1:p.Ser822Cys
XM_024450853.1:c.2462C>G	XP_024306621.1:p.Ser821Cys
XM_024450854.1:c.2426C>G	XP_024306622.1:p.Ser809Cys
XM_024450855.1:c.2345C>G	XP_024306623.1:p.Ser782Cys
XM_024450856.1:c.2264C>G	XP_024306624.1:p.Ser755Cys
XM_024450857.1:c.2264C>G	XP_024306625.1:p.Ser755Cys
XM_024450858.1:c.2183C>G	XP_024306626.1:p.Ser728Cys
XM_024450859.1:c.2180C>G	XP_024306627.1:p.Ser727Cys
XM_024450860.1:c.2105C>G	XP_024306628.1:p.Ser702Cys
XM_024450861.1:c.2105C>G	XP_024306629.1:p.Ser702Cys
XM_024450862.1:c.2102C>G	XP_024306630.1:p.Ser701Cys
NM_018127.7:c.2387C>G MANE Select	NP_060597.4:p.Ser796Cys
NM_001165962.2:c.2267C>G	NP_001159434.1:p.Ser756Cys
NM_173717.2:c.2384C>G	NP_776065.1:p.Ser795Cys