Canonical Allele Identifier: CA10648158

Gene: EARS2

Linked Data

• ClinVar Variation Id: 318531
• ClinVar RCV Id: RCV000405238
• dbSNP Id: rs11300207
• MyVariant Identifiers: chr16:g.23535157dupT (hg19) ; chr16:g.23535156_23535157insT (hg19) ; chr16:g.23523836dupT (hg38) ; chr16:g.23523835_23523836insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23523837dup , CM000678.2:g.23523837dup	GRCh38
NC_000016.9:g.23535158dup , CM000678.1:g.23535158dup	GRCh37
NC_000016.8:g.23442659dup	NCBI36
NG_027752.1:g.38540dup
NG_027752.2:g.38540dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.*535dup MANE Select	ENSP00000395196.2:n.*535dup
ENST00000674054.1:c.*535dup	ENSP00000501251.1:n.*535dup
ENST00000449606.5:c.*535dup	ENSP00000395196.1:n.*535dup
ENST00000563459.5:c.*535dup	ENSP00000456467.1:n.*535dup
ENST00000564776.1:n.121+128dup
ENST00000564987.1:n.1751dup
NM_001083614.1:c.*535dup	NP_001077083.1:n.*535dup
NR_003501.1:n.2139dup
XM_011545738.1:c.*535dup	XP_011544040.1:n.*535dup
XM_011545739.1:c.*535dup	XP_011544041.1:n.*535dup
XR_001751841.1:n.2429dup
NM_001083614.2:c.*535dup MANE Select	NP_001077083.1:n.*535dup
NR_003501.2:n.2114dup