Canonical Allele Identifier: CA8400781

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1203288
• ClinVar RCV Id: RCV001569270
• dbSNP Id: rs200771997
• ExAC: 17:12896102 C / A
• gnomAD v2: 17-12896102-C-A
• gnomAD v3: 17-12992785-C-A
• gnomAD v4: 17-12992785-C-A
• MyVariant Identifiers: chr17:g.12896102C>A (hg19) ; chr17:g.12992785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992785C>A , CM000679.2:g.12992785C>A	GRCh38
NC_000017.10:g.12896102C>A , CM000679.1:g.12896102C>A	GRCh37
NC_000017.9:g.12836827C>A	NCBI36
NG_015808.1:g.30280G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.*33G>T MANE Select	ENSP00000337445.4:n.*33G>T
ENST00000338034.8:c.*33G>T	ENSP00000337445.4:n.*33G>T
ENST00000395962.6:c.*33G>T	ENSP00000379291.1:n.*33G>T
ENST00000426905.7:c.*33G>T	ENSP00000405223.3:n.*33G>T
ENST00000465825.5:n.2401G>T
ENST00000480891.5:n.2343G>T
ENST00000484122.5:n.3344G>T
ENST00000487229.6:n.2060G>T
ENST00000584650.5:c.1913G>T
NM_001165962.1:c.*33G>T	NP_001159434.1:n.*33G>T
NM_018127.6:c.*33G>T	NP_060597.4:n.*33G>T
NM_173717.1:c.*33G>T	NP_776065.1:n.*33G>T
XM_024450850.1:c.*33G>T	XP_024306618.1:n.*33G>T
XM_024450851.1:c.*33G>T	XP_024306619.1:n.*33G>T
XM_024450852.1:c.*33G>T	XP_024306620.1:n.*33G>T
XM_024450853.1:c.*33G>T	XP_024306621.1:n.*33G>T
XM_024450854.1:c.*33G>T	XP_024306622.1:n.*33G>T
XM_024450855.1:c.*33G>T	XP_024306623.1:n.*33G>T
XM_024450856.1:c.*33G>T	XP_024306624.1:n.*33G>T
XM_024450857.1:c.*33G>T	XP_024306625.1:n.*33G>T
XM_024450858.1:c.*33G>T	XP_024306626.1:n.*33G>T
XM_024450859.1:c.*33G>T	XP_024306627.1:n.*33G>T
XM_024450860.1:c.*33G>T	XP_024306628.1:n.*33G>T
XM_024450861.1:c.*33G>T	XP_024306629.1:n.*33G>T
XM_024450862.1:c.*33G>T	XP_024306630.1:n.*33G>T
NM_018127.7:c.*33G>T MANE Select	NP_060597.4:n.*33G>T
NM_001165962.2:c.*33G>T	NP_001159434.1:n.*33G>T
NM_173717.2:c.*33G>T	NP_776065.1:n.*33G>T