Canonical Allele Identifier: CA398222050

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1385240
• ClinVar RCV Id: RCV001871311
• dbSNP Id: rs1439706479
• gnomAD v2: 17-12896161-G-A
• gnomAD v3: 17-12992844-G-A
• gnomAD v4: 17-12992844-G-A
• MyVariant Identifiers: chr17:g.12896161G>A (hg19) ; chr17:g.12992844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992844G>A , CM000679.2:g.12992844G>A	GRCh38
NC_000017.10:g.12896161G>A , CM000679.1:g.12896161G>A	GRCh37
NC_000017.9:g.12836886G>A	NCBI36
NG_015808.1:g.30221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2455C>T MANE Select	ENSP00000337445.4:p.Gln819Ter
ENST00000338034.8:c.2455C>T	ENSP00000337445.4:p.Gln819Ter
ENST00000395962.6:c.2398C>T	ENSP00000379291.1:p.Gln800Ter
ENST00000426905.7:c.2335C>T	ENSP00000405223.3:p.Gln779Ter
ENST00000465825.5:n.2342C>T
ENST00000480891.5:n.2284C>T
ENST00000484122.5:n.3285C>T
ENST00000487229.6:n.2001C>T
ENST00000584650.5:c.1854C>T
NM_001165962.1:c.2335C>T	NP_001159434.1:p.Gln779Ter
NM_018127.6:c.2455C>T	NP_060597.4:p.Gln819Ter
NM_173717.1:c.2452C>T	NP_776065.1:p.Gln818Ter
XM_024450850.1:c.2614C>T	XP_024306618.1:p.Gln872Ter
XM_024450851.1:c.2536C>T	XP_024306619.1:p.Gln846Ter
XM_024450852.1:c.2533C>T	XP_024306620.1:p.Gln845Ter
XM_024450853.1:c.2530C>T	XP_024306621.1:p.Gln844Ter
XM_024450854.1:c.2494C>T	XP_024306622.1:p.Gln832Ter
XM_024450855.1:c.2413C>T	XP_024306623.1:p.Gln805Ter
XM_024450856.1:c.2332C>T	XP_024306624.1:p.Gln778Ter
XM_024450857.1:c.2332C>T	XP_024306625.1:p.Gln778Ter
XM_024450858.1:c.2251C>T	XP_024306626.1:p.Gln751Ter
XM_024450859.1:c.2248C>T	XP_024306627.1:p.Gln750Ter
XM_024450860.1:c.2173C>T	XP_024306628.1:p.Gln725Ter
XM_024450861.1:c.2173C>T	XP_024306629.1:p.Gln725Ter
XM_024450862.1:c.2170C>T	XP_024306630.1:p.Gln724Ter
NM_018127.7:c.2455C>T MANE Select	NP_060597.4:p.Gln819Ter
NM_001165962.2:c.2335C>T	NP_001159434.1:p.Gln779Ter
NM_173717.2:c.2452C>T	NP_776065.1:p.Gln818Ter