Canonical Allele Identifier: CA395133422

Gene: EARS2

Linked Data

• ClinVar Variation Id: 522736
• ClinVar RCV Id: RCV000625893
• dbSNP Id: rs1555503379
• gnomAD v4: 16-23535056-G-C
• MyVariant Identifiers: chr16:g.23546377G>C (hg19) ; chr16:g.23535056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535056G>C , CM000678.2:g.23535056G>C	GRCh38
NC_000016.9:g.23546377G>C , CM000678.1:g.23546377G>C	GRCh37
NC_000016.8:g.23453878G>C	NCBI36
NG_027752.1:g.27320C>G
NG_027752.2:g.27320C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.790C>G MANE Select	ENSP00000395196.2:p.Leu264Val
ENST00000674054.1:c.790C>G	ENSP00000501251.1:p.Leu264Val
ENST00000449606.5:c.790C>G	ENSP00000395196.1:p.Leu264Val
ENST00000562402.1:n.394C>G
ENST00000563232.1:c.790C>G	ENSP00000456218.1:p.Leu264Val
ENST00000563459.5:c.790C>G	ENSP00000456467.1:p.Leu264Val
ENST00000564501.5:c.790C>G	ENSP00000457107.1:p.Leu264Val
ENST00000564987.1:n.414C>G
ENST00000565344.1:n.163C>G
NM_001083614.1:c.790C>G	NP_001077083.1:p.Leu264Val
NM_001308211.1:c.790C>G	NP_001295140.1:p.Leu264Val
NR_003501.1:n.822C>G
XM_011545738.1:c.718C>G	XP_011544040.1:p.Leu240Val
XM_011545739.1:c.511C>G	XP_011544041.1:p.Leu171Val
XR_001751841.1:n.1112C>G
NM_001083614.2:c.790C>G MANE Select	NP_001077083.1:p.Leu264Val
NR_003501.2:n.797C>G