Canonical Allele Identifier: CA395134710

Gene: EARS2

Linked Data

• MyVariant Identifiers: chr16:g.23546571T>A (hg19) ; chr16:g.23535250T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535250T>A , CM000678.2:g.23535250T>A	GRCh38
NC_000016.9:g.23546571T>A , CM000678.1:g.23546571T>A	GRCh37
NC_000016.8:g.23454072T>A	NCBI36
NG_027752.1:g.27126A>T
NG_027752.2:g.27126A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.596A>T MANE Select	ENSP00000395196.2:p.Gln199Leu
ENST00000674054.1:c.596A>T	ENSP00000501251.1:p.Gln199Leu
ENST00000449606.5:c.596A>T	ENSP00000395196.1:p.Gln199Leu
ENST00000562402.1:n.200A>T
ENST00000563232.1:c.596A>T	ENSP00000456218.1:p.Gln199Leu
ENST00000563459.5:c.596A>T	ENSP00000456467.1:p.Gln199Leu
ENST00000564501.5:c.596A>T	ENSP00000457107.1:p.Gln199Leu
ENST00000564987.1:n.220A>T
NM_001083614.1:c.596A>T	NP_001077083.1:p.Gln199Leu
NM_001308211.1:c.596A>T	NP_001295140.1:p.Gln199Leu
NR_003501.1:n.628A>T
XM_011545738.1:c.524A>T	XP_011544040.1:p.Gln175Leu
XM_011545739.1:c.317A>T	XP_011544041.1:p.Gln106Leu
XR_001751841.1:n.918A>T
NM_001083614.2:c.596A>T MANE Select	NP_001077083.1:p.Gln199Leu
NR_003501.2:n.603A>T