Canonical Allele Identifier: CA498009733

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993043-G-T
• MyVariant Identifiers: chr17:g.12896360G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993043G>T , CM000679.2:g.12993043G>T	GRCh38
NC_000017.10:g.12896360G>T , CM000679.1:g.12896360G>T	GRCh37
NC_000017.9:g.12837085G>T	NCBI36
NG_015808.1:g.30022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2256C>A MANE Select	ENSP00000337445.4:p.Val752=
ENST00000338034.8:c.2256C>A	ENSP00000337445.4:p.Val752=
ENST00000395962.6:c.2199C>A	ENSP00000379291.1:p.Val733=
ENST00000426905.7:c.2136C>A	ENSP00000405223.3:p.Val712=
ENST00000465825.5:n.2143C>A
ENST00000480891.5:n.2085C>A
ENST00000484122.5:n.3086C>A
ENST00000487229.6:n.1802C>A
ENST00000584650.5:c.1655C>A
NM_001165962.1:c.2136C>A	NP_001159434.1:p.Val712=
NM_018127.6:c.2256C>A	NP_060597.4:p.Val752=
NM_173717.1:c.2253C>A	NP_776065.1:p.Val751=
XM_024450850.1:c.2415C>A	XP_024306618.1:p.Val805=
XM_024450851.1:c.2337C>A	XP_024306619.1:p.Val779=
XM_024450852.1:c.2334C>A	XP_024306620.1:p.Val778=
XM_024450853.1:c.2331C>A	XP_024306621.1:p.Val777=
XM_024450854.1:c.2295C>A	XP_024306622.1:p.Val765=
XM_024450855.1:c.2214C>A	XP_024306623.1:p.Val738=
XM_024450856.1:c.2133C>A	XP_024306624.1:p.Val711=
XM_024450857.1:c.2133C>A	XP_024306625.1:p.Val711=
XM_024450858.1:c.2052C>A	XP_024306626.1:p.Val684=
XM_024450859.1:c.2049C>A	XP_024306627.1:p.Val683=
XM_024450860.1:c.1974C>A	XP_024306628.1:p.Val658=
XM_024450861.1:c.1974C>A	XP_024306629.1:p.Val658=
XM_024450862.1:c.1971C>A	XP_024306630.1:p.Val657=
NM_018127.7:c.2256C>A MANE Select	NP_060597.4:p.Val752=
NM_001165962.2:c.2136C>A	NP_001159434.1:p.Val712=
NM_173717.2:c.2253C>A	NP_776065.1:p.Val751=