Canonical Allele Identifier: CA494460174

Gene: EARS2

Linked Data

• MyVariant Identifiers: chr16:g.23546477C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535156C>T , CM000678.2:g.23535156C>T	GRCh38
NC_000016.9:g.23546477C>T , CM000678.1:g.23546477C>T	GRCh37
NC_000016.8:g.23453978C>T	NCBI36
NG_027752.1:g.27220G>A
NG_027752.2:g.27220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.690G>A MANE Select	ENSP00000395196.2:p.Leu230=
ENST00000674054.1:c.690G>A	ENSP00000501251.1:p.Leu230=
ENST00000449606.5:c.690G>A	ENSP00000395196.1:p.Leu230=
ENST00000562402.1:n.294G>A
ENST00000563232.1:c.690G>A	ENSP00000456218.1:p.Leu230=
ENST00000563459.5:c.690G>A	ENSP00000456467.1:p.Leu230=
ENST00000564501.5:c.690G>A	ENSP00000457107.1:p.Leu230=
ENST00000564987.1:n.314G>A
ENST00000565344.1:n.63G>A
NM_001083614.1:c.690G>A	NP_001077083.1:p.Leu230=
NM_001308211.1:c.690G>A	NP_001295140.1:p.Leu230=
NR_003501.1:n.722G>A
XM_011545738.1:c.618G>A	XP_011544040.1:p.Leu206=
XM_011545739.1:c.411G>A	XP_011544041.1:p.Leu137=
XR_001751841.1:n.1012G>A
NM_001083614.2:c.690G>A MANE Select	NP_001077083.1:p.Leu230=
NR_003501.2:n.697G>A