Canonical Allele Identifier: CA16606985
Gene: EARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 392792
ClinVar RCV Id: RCV000441862
dbSNP Id: rs1057524634
MyVariant Identifiers: chr16:g.23546467C>G (hg19) chr16:g.23535146C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23535146C>G , CM000678.2:g.23535146C>G GRCh38
NC_000016.9:g.23546467C>G , CM000678.1:g.23546467C>G GRCh37
NC_000016.8:g.23453968C>G NCBI36
NG_027752.1:g.27230G>C
NG_027752.2:g.27230G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000449606.7:c.700G>C MANE Select ENSP00000395196.2:p.Val234Leu
ENST00000674054.1:c.700G>C ENSP00000501251.1:p.Val234Leu
ENST00000449606.5:c.700G>C ENSP00000395196.1:p.Val234Leu
ENST00000562402.1:n.304G>C
ENST00000563232.1:c.700G>C ENSP00000456218.1:p.Val234Leu
ENST00000563459.5:c.700G>C ENSP00000456467.1:p.Val234Leu
ENST00000564501.5:c.700G>C ENSP00000457107.1:p.Val234Leu
ENST00000564987.1:n.324G>C
ENST00000565344.1:n.73G>C
NM_001083614.1:c.700G>C NP_001077083.1:p.Val234Leu
NM_001308211.1:c.700G>C NP_001295140.1:p.Val234Leu
NR_003501.1:n.732G>C
XM_011545738.1:c.628G>C XP_011544040.1:p.Val210Leu
XM_011545739.1:c.421G>C XP_011544041.1:p.Val141Leu
XR_001751841.1:n.1022G>C
NM_001083614.2:c.700G>C MANE Select NP_001077083.1:p.Val234Leu
NR_003501.2:n.707G>C
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