Canonical Allele Identifier: CA7962524

Gene: EARS2

Linked Data

• ClinVar Variation Id: 2062818
• ClinVar RCV Id: RCV002958029
• dbSNP Id: rs754845368
• ExAC: 16:23546470 C / A
• gnomAD v2: 16-23546470-C-A
• gnomAD v3: 16-23535149-C-A
• gnomAD v4: 16-23535149-C-A
• MyVariant Identifiers: chr16:g.23546470C>A (hg19) ; chr16:g.23535149C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535149C>A , CM000678.2:g.23535149C>A	GRCh38
NC_000016.9:g.23546470C>A , CM000678.1:g.23546470C>A	GRCh37
NC_000016.8:g.23453971C>A	NCBI36
NG_027752.1:g.27227G>T
NG_027752.2:g.27227G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.697G>T MANE Select	ENSP00000395196.2:p.Val233Leu
ENST00000674054.1:c.697G>T	ENSP00000501251.1:p.Val233Leu
ENST00000449606.5:c.697G>T	ENSP00000395196.1:p.Val233Leu
ENST00000562402.1:n.301G>T
ENST00000563232.1:c.697G>T	ENSP00000456218.1:p.Val233Leu
ENST00000563459.5:c.697G>T	ENSP00000456467.1:p.Val233Leu
ENST00000564501.5:c.697G>T	ENSP00000457107.1:p.Val233Leu
ENST00000564987.1:n.321G>T
ENST00000565344.1:n.70G>T
NM_001083614.1:c.697G>T	NP_001077083.1:p.Val233Leu
NM_001308211.1:c.697G>T	NP_001295140.1:p.Val233Leu
NR_003501.1:n.729G>T
XM_011545738.1:c.625G>T	XP_011544040.1:p.Val209Leu
XM_011545739.1:c.418G>T	XP_011544041.1:p.Val140Leu
XR_001751841.1:n.1019G>T
NM_001083614.2:c.697G>T MANE Select	NP_001077083.1:p.Val233Leu
NR_003501.2:n.704G>T