Canonical Allele Identifier: CA7962430

Gene: EARS2

Linked Data

• ClinVar Variation Id: 425101
• ClinVar RCV Id: RCV000487917 ; RCV001121525 ; RCV002525993
• dbSNP Id: rs187662524
• ExAC: 16:23544000 C / T
• gnomAD v2: 16-23544000-C-T
• gnomAD v3: 16-23532679-C-T
• gnomAD v4: 16-23532679-C-T
• MyVariant Identifiers: chr16:g.23544000C>T (hg19) ; chr16:g.23532679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23532679C>T , CM000678.2:g.23532679C>T	GRCh38
NC_000016.9:g.23544000C>T , CM000678.1:g.23544000C>T	GRCh37
NC_000016.8:g.23451501C>T	NCBI36
NG_027752.1:g.29697G>A
NG_027752.2:g.29697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.1045G>A MANE Select	ENSP00000395196.2:p.Glu349Lys
ENST00000674054.1:c.1045G>A	ENSP00000501251.1:p.Glu349Lys
ENST00000449606.5:c.1045G>A	ENSP00000395196.1:p.Glu349Lys
ENST00000563232.1:c.1045G>A	ENSP00000456218.1:p.Glu349Lys
ENST00000563459.5:c.1045G>A	ENSP00000456467.1:p.Glu349Lys
ENST00000564501.5:c.1045G>A	ENSP00000457107.1:p.Glu349Lys
ENST00000564987.1:n.669G>A
ENST00000565344.1:n.418G>A
NM_001083614.1:c.1045G>A	NP_001077083.1:p.Glu349Lys
NM_001308211.1:c.1045G>A	NP_001295140.1:p.Glu349Lys
NR_003501.1:n.1077G>A
XM_011545738.1:c.973G>A	XP_011544040.1:p.Glu325Lys
XM_011545739.1:c.766G>A	XP_011544041.1:p.Glu256Lys
XR_001751841.1:n.1367G>A
NM_001083614.2:c.1045G>A MANE Select	NP_001077083.1:p.Glu349Lys
NR_003501.2:n.1052G>A