Canonical Allele Identifier: CA279517693

Gene: EARS2

Linked Data

• dbSNP Id: rs373183863
• gnomAD v3: 16-23535153-G-A
• gnomAD v4: 16-23535153-G-A
• MyVariant Identifiers: chr16:g.23546474G>A (hg19) ; chr16:g.23535153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535153G>A , CM000678.2:g.23535153G>A	GRCh38
NC_000016.9:g.23546474G>A , CM000678.1:g.23546474G>A	GRCh37
NC_000016.8:g.23453975G>A	NCBI36
NG_027752.1:g.27223C>T
NG_027752.2:g.27223C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.693C>T MANE Select	ENSP00000395196.2:p.Ala231=
ENST00000674054.1:c.693C>T	ENSP00000501251.1:p.Ala231=
ENST00000449606.5:c.693C>T	ENSP00000395196.1:p.Ala231=
ENST00000562402.1:n.297C>T
ENST00000563232.1:c.693C>T	ENSP00000456218.1:p.Ala231=
ENST00000563459.5:c.693C>T	ENSP00000456467.1:p.Ala231=
ENST00000564501.5:c.693C>T	ENSP00000457107.1:p.Ala231=
ENST00000564987.1:n.317C>T
ENST00000565344.1:n.66C>T
NM_001083614.1:c.693C>T	NP_001077083.1:p.Ala231=
NM_001308211.1:c.693C>T	NP_001295140.1:p.Ala231=
NR_003501.1:n.725C>T
XM_011545738.1:c.621C>T	XP_011544040.1:p.Ala207=
XM_011545739.1:c.414C>T	XP_011544041.1:p.Ala138=
XR_001751841.1:n.1015C>T
NM_001083614.2:c.693C>T MANE Select	NP_001077083.1:p.Ala231=
NR_003501.2:n.700C>T