Canonical Allele Identifier: CA8401825

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 241271
• ClinVar RCV Id: RCV000786129 ; RCV001085155 ; RCV003224237 ; RCV003955363
• dbSNP Id: rs9895963
• ExAC: 17:12921110 G / C
• gnomAD v2: 17-12921110-G-C
• gnomAD v3: 17-13017793-G-C
• gnomAD v4: 17-13017793-G-C
• MyVariant Identifiers: chr17:g.12921110G>C (hg19) ; chr17:g.13017793G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13017793G>C , CM000679.2:g.13017793G>C	GRCh38
NC_000017.10:g.12921110G>C , CM000679.1:g.12921110G>C	GRCh37
NC_000017.9:g.12861835G>C	NCBI36
NG_015808.1:g.5272C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.155C>G MANE Select	ENSP00000337445.4:p.Ser52Cys
ENST00000338034.8:c.155C>G	ENSP00000337445.4:p.Ser52Cys
ENST00000395962.6:c.155C>G	ENSP00000379291.1:p.Ser52Cys
ENST00000426905.7:c.155C>G	ENSP00000405223.3:p.Ser52Cys
ENST00000578071.1:c.155C>G	ENSP00000477482.1:p.Ser52Cys
ENST00000583371.5:c.-38+198C>G	ENSP00000464358.1:n.-38+198C>G
NM_001165962.1:c.155C>G	NP_001159434.1:p.Ser52Cys
NM_018127.6:c.155C>G	NP_060597.4:p.Ser52Cys
NM_173717.1:c.155C>G	NP_776065.1:p.Ser52Cys
XM_024450850.1:c.155C>G	XP_024306618.1:p.Ser52Cys
XM_024450851.1:c.155C>G	XP_024306619.1:p.Ser52Cys
XM_024450852.1:c.155C>G	XP_024306620.1:p.Ser52Cys
XM_024450853.1:c.155C>G	XP_024306621.1:p.Ser52Cys
XM_024450854.1:c.155C>G	XP_024306622.1:p.Ser52Cys
XM_024450855.1:c.155C>G	XP_024306623.1:p.Ser52Cys
NM_018127.7:c.155C>G MANE Select	NP_060597.4:p.Ser52Cys
NM_001165962.2:c.155C>G	NP_001159434.1:p.Ser52Cys
NM_173717.2:c.155C>G	NP_776065.1:p.Ser52Cys