Canonical Allele Identifier: CA398222267

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992958-G-T
• MyVariant Identifiers: chr17:g.12896275G>T (hg19) ; chr17:g.12992958G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992958G>T , CM000679.2:g.12992958G>T	GRCh38
NC_000017.10:g.12896275G>T , CM000679.1:g.12896275G>T	GRCh37
NC_000017.9:g.12837000G>T	NCBI36
NG_015808.1:g.30107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2341C>A MANE Select	ENSP00000337445.4:p.Arg781Ser
ENST00000338034.8:c.2341C>A	ENSP00000337445.4:p.Arg781Ser
ENST00000395962.6:c.2284C>A	ENSP00000379291.1:p.Arg762Ser
ENST00000426905.7:c.2221C>A	ENSP00000405223.3:p.Arg741Ser
ENST00000465825.5:n.2228C>A
ENST00000480891.5:n.2170C>A
ENST00000484122.5:n.3171C>A
ENST00000487229.6:n.1887C>A
ENST00000584650.5:c.1740C>A
NM_001165962.1:c.2221C>A	NP_001159434.1:p.Arg741Ser
NM_018127.6:c.2341C>A	NP_060597.4:p.Arg781Ser
NM_173717.1:c.2338C>A	NP_776065.1:p.Arg780Ser
XM_024450850.1:c.2500C>A	XP_024306618.1:p.Arg834Ser
XM_024450851.1:c.2422C>A	XP_024306619.1:p.Arg808Ser
XM_024450852.1:c.2419C>A	XP_024306620.1:p.Arg807Ser
XM_024450853.1:c.2416C>A	XP_024306621.1:p.Arg806Ser
XM_024450854.1:c.2380C>A	XP_024306622.1:p.Arg794Ser
XM_024450855.1:c.2299C>A	XP_024306623.1:p.Arg767Ser
XM_024450856.1:c.2218C>A	XP_024306624.1:p.Arg740Ser
XM_024450857.1:c.2218C>A	XP_024306625.1:p.Arg740Ser
XM_024450858.1:c.2137C>A	XP_024306626.1:p.Arg713Ser
XM_024450859.1:c.2134C>A	XP_024306627.1:p.Arg712Ser
XM_024450860.1:c.2059C>A	XP_024306628.1:p.Arg687Ser
XM_024450861.1:c.2059C>A	XP_024306629.1:p.Arg687Ser
XM_024450862.1:c.2056C>A	XP_024306630.1:p.Arg686Ser
NM_018127.7:c.2341C>A MANE Select	NP_060597.4:p.Arg781Ser
NM_001165962.2:c.2221C>A	NP_001159434.1:p.Arg741Ser
NM_173717.2:c.2338C>A	NP_776065.1:p.Arg780Ser