Canonical Allele Identifier: CA395133418

Gene: EARS2

Linked Data

• gnomAD v4: 16-23535055-A-G
• MyVariant Identifiers: chr16:g.23546376A>G (hg19) ; chr16:g.23535055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535055A>G , CM000678.2:g.23535055A>G	GRCh38
NC_000016.9:g.23546376A>G , CM000678.1:g.23546376A>G	GRCh37
NC_000016.8:g.23453877A>G	NCBI36
NG_027752.1:g.27321T>C
NG_027752.2:g.27321T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.791T>C MANE Select	ENSP00000395196.2:p.Leu264Pro
ENST00000674054.1:c.791T>C	ENSP00000501251.1:p.Leu264Pro
ENST00000449606.5:c.791T>C	ENSP00000395196.1:p.Leu264Pro
ENST00000562402.1:n.395T>C
ENST00000563232.1:c.791T>C	ENSP00000456218.1:p.Leu264Pro
ENST00000563459.5:c.791T>C	ENSP00000456467.1:p.Leu264Pro
ENST00000564501.5:c.791T>C	ENSP00000457107.1:p.Leu264Pro
ENST00000564987.1:n.415T>C
ENST00000565344.1:n.164T>C
NM_001083614.1:c.791T>C	NP_001077083.1:p.Leu264Pro
NM_001308211.1:c.791T>C	NP_001295140.1:p.Leu264Pro
NR_003501.1:n.823T>C
XM_011545738.1:c.719T>C	XP_011544040.1:p.Leu240Pro
XM_011545739.1:c.512T>C	XP_011544041.1:p.Leu171Pro
XR_001751841.1:n.1113T>C
NM_001083614.2:c.791T>C MANE Select	NP_001077083.1:p.Leu264Pro
NR_003501.2:n.798T>C