Canonical Allele Identifier: CA395133952

Gene: EARS2

Linked Data

• gnomAD v4: 16-23535152-A-G
• MyVariant Identifiers: chr16:g.23546473A>G (hg19) ; chr16:g.23535152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535152A>G , CM000678.2:g.23535152A>G	GRCh38
NC_000016.9:g.23546473A>G , CM000678.1:g.23546473A>G	GRCh37
NC_000016.8:g.23453974A>G	NCBI36
NG_027752.1:g.27224T>C
NG_027752.2:g.27224T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.694T>C MANE Select	ENSP00000395196.2:p.Cys232Arg
ENST00000674054.1:c.694T>C	ENSP00000501251.1:p.Cys232Arg
ENST00000449606.5:c.694T>C	ENSP00000395196.1:p.Cys232Arg
ENST00000562402.1:n.298T>C
ENST00000563232.1:c.694T>C	ENSP00000456218.1:p.Cys232Arg
ENST00000563459.5:c.694T>C	ENSP00000456467.1:p.Cys232Arg
ENST00000564501.5:c.694T>C	ENSP00000457107.1:p.Cys232Arg
ENST00000564987.1:n.318T>C
ENST00000565344.1:n.67T>C
NM_001083614.1:c.694T>C	NP_001077083.1:p.Cys232Arg
NM_001308211.1:c.694T>C	NP_001295140.1:p.Cys232Arg
NR_003501.1:n.726T>C
XM_011545738.1:c.622T>C	XP_011544040.1:p.Cys208Arg
XM_011545739.1:c.415T>C	XP_011544041.1:p.Cys139Arg
XR_001751841.1:n.1016T>C
NM_001083614.2:c.694T>C MANE Select	NP_001077083.1:p.Cys232Arg
NR_003501.2:n.701T>C