Canonical Allele Identifier: CA398222322

Gene: ELAC2

Linked Data

• dbSNP Id: rs1300667878
• gnomAD v2: 17-12896299-C-T
• gnomAD v4: 17-12992982-C-T
• MyVariant Identifiers: chr17:g.12896299C>T (hg19) ; chr17:g.12992982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992982C>T , CM000679.2:g.12992982C>T	GRCh38
NC_000017.10:g.12896299C>T , CM000679.1:g.12896299C>T	GRCh37
NC_000017.9:g.12837024C>T	NCBI36
NG_015808.1:g.30083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2317G>A MANE Select	ENSP00000337445.4:p.Gly773Ser
ENST00000338034.8:c.2317G>A	ENSP00000337445.4:p.Gly773Ser
ENST00000395962.6:c.2260G>A	ENSP00000379291.1:p.Gly754Ser
ENST00000426905.7:c.2197G>A	ENSP00000405223.3:p.Gly733Ser
ENST00000465825.5:n.2204G>A
ENST00000480891.5:n.2146G>A
ENST00000484122.5:n.3147G>A
ENST00000487229.6:n.1863G>A
ENST00000584650.5:c.1716G>A
NM_001165962.1:c.2197G>A	NP_001159434.1:p.Gly733Ser
NM_018127.6:c.2317G>A	NP_060597.4:p.Gly773Ser
NM_173717.1:c.2314G>A	NP_776065.1:p.Gly772Ser
XM_024450850.1:c.2476G>A	XP_024306618.1:p.Gly826Ser
XM_024450851.1:c.2398G>A	XP_024306619.1:p.Gly800Ser
XM_024450852.1:c.2395G>A	XP_024306620.1:p.Gly799Ser
XM_024450853.1:c.2392G>A	XP_024306621.1:p.Gly798Ser
XM_024450854.1:c.2356G>A	XP_024306622.1:p.Gly786Ser
XM_024450855.1:c.2275G>A	XP_024306623.1:p.Gly759Ser
XM_024450856.1:c.2194G>A	XP_024306624.1:p.Gly732Ser
XM_024450857.1:c.2194G>A	XP_024306625.1:p.Gly732Ser
XM_024450858.1:c.2113G>A	XP_024306626.1:p.Gly705Ser
XM_024450859.1:c.2110G>A	XP_024306627.1:p.Gly704Ser
XM_024450860.1:c.2035G>A	XP_024306628.1:p.Gly679Ser
XM_024450861.1:c.2035G>A	XP_024306629.1:p.Gly679Ser
XM_024450862.1:c.2032G>A	XP_024306630.1:p.Gly678Ser
NM_018127.7:c.2317G>A MANE Select	NP_060597.4:p.Gly773Ser
NM_001165962.2:c.2197G>A	NP_001159434.1:p.Gly733Ser
NM_173717.2:c.2314G>A	NP_776065.1:p.Gly772Ser