Canonical Allele Identifier: CA10643265

Gene: EARS2

Linked Data

• ClinVar Variation Id: 318528
• ClinVar RCV Id: RCV000385526
• dbSNP Id: rs185800148
• gnomAD v2: 16-23534778-A-T
• gnomAD v3: 16-23523457-A-T
• gnomAD v4: 16-23523457-A-T
• MyVariant Identifiers: chr16:g.23534778A>T (hg19) ; chr16:g.23523457A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23523457A>T , CM000678.2:g.23523457A>T	GRCh38
NC_000016.9:g.23534778A>T , CM000678.1:g.23534778A>T	GRCh37
NC_000016.8:g.23442279A>T	NCBI36
NG_027752.1:g.38919T>A
NG_027752.2:g.38919T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.*914T>A MANE Select	ENSP00000395196.2:n.*914T>A
ENST00000674054.1:c.*861-40T>A	ENSP00000501251.1:n.*861-40T>A
ENST00000449606.5:c.*914T>A	ENSP00000395196.1:n.*914T>A
ENST00000563459.5:c.*861-40T>A	ENSP00000456467.1:n.*861-40T>A
ENST00000564759.1:n.189T>A
ENST00000564776.1:n.122-252T>A
ENST00000564987.1:n.2077-40T>A
NM_001083614.1:c.*914T>A	NP_001077083.1:n.*914T>A
NR_003501.1:n.2465-40T>A
XM_011545738.1:c.*914T>A	XP_011544040.1:n.*914T>A
XM_011545739.1:c.*914T>A	XP_011544041.1:n.*914T>A
XR_001751841.1:n.2755-40T>A
NM_001083614.2:c.*914T>A MANE Select	NP_001077083.1:n.*914T>A
NR_003501.2:n.2440-40T>A