Canonical Allele Identifier: CA658824405

Gene: EARS2

Linked Data

• ClinVar Variation Id: 559205
• ClinVar RCV Id: RCV000676419
• dbSNP Id: rs1555504721

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23552180_23552181delinsTT , CM000678.2:g.23552180_23552181delinsTT	GRCh38
NC_000016.9:g.23563501_23563502delinsTT , CM000678.1:g.23563501_23563502delinsTT	GRCh37
NC_000016.8:g.23471002_23471003delinsTT	NCBI36
NG_027752.1:g.10195_10196delinsAA
NG_027752.2:g.10195_10196delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.263_264delinsAA MANE Select	ENSP00000395196.2:p.Ala88Glu
ENST00000674054.1:c.263_264delinsAA	ENSP00000501251.1:p.Ala88Glu
ENST00000449606.5:c.263_264delinsAA	ENSP00000395196.1:p.Ala88Glu
ENST00000561859.5:n.270_271delinsAA
ENST00000562581.5:c.*136_*137delinsAA	ENSP00000455519.1:n.*136_*137delinsAA
ENST00000563232.1:c.263_264delinsAA	ENSP00000456218.1:p.Ala88Glu
ENST00000563459.5:c.263_264delinsAA	ENSP00000456467.1:p.Ala88Glu
ENST00000564461.5:n.447_448delinsAA
ENST00000564501.5:c.263_264delinsAA	ENSP00000457107.1:p.Ala88Glu
ENST00000564668.5:c.*43_*44delinsAA	ENSP00000455789.1:n.*43_*44delinsAA
ENST00000564997.1:c.*140_*141delinsAA	ENSP00000455875.1:n.*140_*141delinsAA
NM_001083614.1:c.263_264delinsAA	NP_001077083.1:p.Ala88Glu
NM_001308211.1:c.263_264delinsAA	NP_001295140.1:p.Ala88Glu
NR_003501.1:n.295_296delinsAA
XM_011545738.1:c.191_192delinsAA	XP_011544040.1:p.Ala64Glu
XM_011545739.1:c.-17_-16delinsAA	XP_011544041.1:n.-17_-16delinsAA
XR_001751841.1:n.585_586delinsAA
NM_001083614.2:c.263_264delinsAA MANE Select	NP_001077083.1:p.Ala88Glu
NR_003501.2:n.270_271delinsAA