Canonical Allele Identifier: CA395132896
Gene: EARS2 HGNC NCBI

Linked Data

dbSNP Id: rs1238096045

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23534974T>C , CM000678.2:g.23534974T>C GRCh38
NC_000016.9:g.23546295T>C , CM000678.1:g.23546295T>C GRCh37
NC_000016.8:g.23453796T>C NCBI36
NG_027752.1:g.27402A>G
NG_027752.2:g.27402A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449606.7:c.872A>G MANE Select ENSP00000395196.2:p.Asp291Gly
ENST00000674054.1:c.872A>G ENSP00000501251.1:p.Asp291Gly
ENST00000449606.5:c.872A>G ENSP00000395196.1:p.Asp291Gly
ENST00000562402.1:n.476A>G
ENST00000563232.1:c.872A>G ENSP00000456218.1:p.Asp291Gly
ENST00000563459.5:c.872A>G ENSP00000456467.1:p.Asp291Gly
ENST00000564501.5:c.872A>G ENSP00000457107.1:p.Asp291Gly
ENST00000564987.1:n.496A>G
ENST00000565344.1:n.245A>G
NM_001083614.1:c.872A>G NP_001077083.1:p.Asp291Gly
NM_001308211.1:c.872A>G NP_001295140.1:p.Asp291Gly
NR_003501.1:n.904A>G
XM_011545738.1:c.800A>G XP_011544040.1:p.Asp267Gly
XM_011545739.1:c.593A>G XP_011544041.1:p.Asp198Gly
XR_001751841.1:n.1194A>G
NM_001083614.2:c.872A>G MANE Select NP_001077083.1:p.Asp291Gly
NR_003501.2:n.879A>G