Canonical Allele Identifier: CA8400844

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 241276
• ClinVar RCV Id: RCV000227339
• dbSNP Id: rs199998904
• ExAC: 17:12896341 T / C
• gnomAD v2: 17-12896341-T-C
• gnomAD v3: 17-12993024-T-C
• gnomAD v4: 17-12993024-T-C
• MyVariant Identifiers: chr17:g.12896341T>C (hg19) ; chr17:g.12993024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993024T>C , CM000679.2:g.12993024T>C	GRCh38
NC_000017.10:g.12896341T>C , CM000679.1:g.12896341T>C	GRCh37
NC_000017.9:g.12837066T>C	NCBI36
NG_015808.1:g.30041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2275A>G MANE Select	ENSP00000337445.4:p.Thr759Ala
ENST00000338034.8:c.2275A>G	ENSP00000337445.4:p.Thr759Ala
ENST00000395962.6:c.2218A>G	ENSP00000379291.1:p.Thr740Ala
ENST00000426905.7:c.2155A>G	ENSP00000405223.3:p.Thr719Ala
ENST00000465825.5:n.2162A>G
ENST00000480891.5:n.2104A>G
ENST00000484122.5:n.3105A>G
ENST00000487229.6:n.1821A>G
ENST00000584650.5:c.1674A>G
NM_001165962.1:c.2155A>G	NP_001159434.1:p.Thr719Ala
NM_018127.6:c.2275A>G	NP_060597.4:p.Thr759Ala
NM_173717.1:c.2272A>G	NP_776065.1:p.Thr758Ala
XM_024450850.1:c.2434A>G	XP_024306618.1:p.Thr812Ala
XM_024450851.1:c.2356A>G	XP_024306619.1:p.Thr786Ala
XM_024450852.1:c.2353A>G	XP_024306620.1:p.Thr785Ala
XM_024450853.1:c.2350A>G	XP_024306621.1:p.Thr784Ala
XM_024450854.1:c.2314A>G	XP_024306622.1:p.Thr772Ala
XM_024450855.1:c.2233A>G	XP_024306623.1:p.Thr745Ala
XM_024450856.1:c.2152A>G	XP_024306624.1:p.Thr718Ala
XM_024450857.1:c.2152A>G	XP_024306625.1:p.Thr718Ala
XM_024450858.1:c.2071A>G	XP_024306626.1:p.Thr691Ala
XM_024450859.1:c.2068A>G	XP_024306627.1:p.Thr690Ala
XM_024450860.1:c.1993A>G	XP_024306628.1:p.Thr665Ala
XM_024450861.1:c.1993A>G	XP_024306629.1:p.Thr665Ala
XM_024450862.1:c.1990A>G	XP_024306630.1:p.Thr664Ala
NM_018127.7:c.2275A>G MANE Select	NP_060597.4:p.Thr759Ala
NM_001165962.2:c.2155A>G	NP_001159434.1:p.Thr719Ala
NM_173717.2:c.2272A>G	NP_776065.1:p.Thr758Ala