Canonical Allele Identifier: CA7962656

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23552164T>C , CM000678.2:g.23552164T>C	GRCh38
NC_000016.9:g.23563485T>C , CM000678.1:g.23563485T>C	GRCh37
NC_000016.8:g.23470986T>C	NCBI36
NG_027752.1:g.10212A>G
NG_027752.2:g.10212A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001083614.2:c.280A>G MANE Select	NP_001077083.1:p.Met94Val
ENST00000449606.7:c.280A>G MANE Select	ENSP00000395196.2:p.Met94Val
NM_001083614.1:c.280A>G	NP_001077083.1:p.Met94Val
NM_001308211.1:c.280A>G	NP_001295140.1:p.Met94Val
NR_003501.1:n.312A>G
NR_003501.2:n.287A>G
ENST00000449606.5:c.280A>G	ENSP00000395196.1:p.Met94Val
ENST00000561859.5:n.287A>G
ENST00000562581.5:c.*153A>G	ENSP00000455519.1:n.*153A>G
ENST00000563232.1:c.280A>G	ENSP00000456218.1:p.Met94Val
ENST00000563459.5:c.280A>G	ENSP00000456467.1:p.Met94Val
ENST00000564461.5:n.464A>G
ENST00000564501.5:c.280A>G	ENSP00000457107.1:p.Met94Val
ENST00000564668.5:c.*60A>G	ENSP00000455789.1:n.*60A>G
ENST00000564997.1:c.*157A>G	ENSP00000455875.1:n.*157A>G
ENST00000674054.1:c.280A>G	ENSP00000501251.1:p.Met94Val
XM_011545738.1:c.208A>G	XP_011544040.1:p.Met70Val
XM_011545739.1:c.1A>G	XP_011544041.1:p.Met1Val
XR_001751841.1:n.602A>G