Canonical Allele Identifier: CA395133929

Gene: EARS2

Linked Data

• MyVariant Identifiers: chr16:g.23546469A>G (hg19) ; chr16:g.23535148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535148A>G , CM000678.2:g.23535148A>G	GRCh38
NC_000016.9:g.23546469A>G , CM000678.1:g.23546469A>G	GRCh37
NC_000016.8:g.23453970A>G	NCBI36
NG_027752.1:g.27228T>C
NG_027752.2:g.27228T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.698T>C MANE Select	ENSP00000395196.2:p.Val233Ala
ENST00000674054.1:c.698T>C	ENSP00000501251.1:p.Val233Ala
ENST00000449606.5:c.698T>C	ENSP00000395196.1:p.Val233Ala
ENST00000562402.1:n.302T>C
ENST00000563232.1:c.698T>C	ENSP00000456218.1:p.Val233Ala
ENST00000563459.5:c.698T>C	ENSP00000456467.1:p.Val233Ala
ENST00000564501.5:c.698T>C	ENSP00000457107.1:p.Val233Ala
ENST00000564987.1:n.322T>C
ENST00000565344.1:n.71T>C
NM_001083614.1:c.698T>C	NP_001077083.1:p.Val233Ala
NM_001308211.1:c.698T>C	NP_001295140.1:p.Val233Ala
NR_003501.1:n.730T>C
XM_011545738.1:c.626T>C	XP_011544040.1:p.Val209Ala
XM_011545739.1:c.419T>C	XP_011544041.1:p.Val140Ala
XR_001751841.1:n.1020T>C
NM_001083614.2:c.698T>C MANE Select	NP_001077083.1:p.Val233Ala
NR_003501.2:n.705T>C