Canonical Allele Identifier: CA130562
Gene: EARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39792
ClinVar RCV Id: RCV000033014 RCV001731474
dbSNP Id: rs397514594
gnomAD v2: 16-23546667-C-T
gnomAD v3: 16-23535346-C-T
gnomAD v4: 16-23535346-C-T
MyVariant Identifiers: chr16:g.23546667C>T (hg19) chr16:g.23535346C>T (hg38)
PubMed: PMID:22492562
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23535346C>T , CM000678.2:g.23535346C>T GRCh38
NC_000016.9:g.23546667C>T , CM000678.1:g.23546667C>T GRCh37
NC_000016.8:g.23454168C>T NCBI36
NG_027752.1:g.27030G>A
NG_027752.2:g.27030G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000449606.7:c.500G>A MANE Select ENSP00000395196.2:p.Cys167Tyr
ENST00000674054.1:c.500G>A ENSP00000501251.1:p.Cys167Tyr
ENST00000449606.5:c.500G>A ENSP00000395196.1:p.Cys167Tyr
ENST00000562402.1:n.104G>A
ENST00000563232.1:c.500G>A ENSP00000456218.1:p.Cys167Tyr
ENST00000563459.5:c.500G>A ENSP00000456467.1:p.Cys167Tyr
ENST00000564501.5:c.500G>A ENSP00000457107.1:p.Cys167Tyr
ENST00000564668.5:c.*280G>A ENSP00000455789.1:n.*280G>A
ENST00000564987.1:n.124G>A
ENST00000566017.5:n.467G>A
NM_001083614.1:c.500G>A NP_001077083.1:p.Cys167Tyr
NM_001308211.1:c.500G>A NP_001295140.1:p.Cys167Tyr
NR_003501.1:n.532G>A
XM_011545738.1:c.428G>A XP_011544040.1:p.Cys143Tyr
XM_011545739.1:c.221G>A XP_011544041.1:p.Cys74Tyr
XR_001751841.1:n.822G>A
NM_001083614.2:c.500G>A MANE Select NP_001077083.1:p.Cys167Tyr
NR_003501.2:n.507G>A
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