Canonical Allele Identifier: CA494460619

Gene: EARS2

Linked Data

• MyVariant Identifiers: chr16:g.23546375C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535054C>G , CM000678.2:g.23535054C>G	GRCh38
NC_000016.9:g.23546375C>G , CM000678.1:g.23546375C>G	GRCh37
NC_000016.8:g.23453876C>G	NCBI36
NG_027752.1:g.27322G>C
NG_027752.2:g.27322G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.792G>C MANE Select	ENSP00000395196.2:p.Leu264=
ENST00000674054.1:c.792G>C	ENSP00000501251.1:p.Leu264=
ENST00000449606.5:c.792G>C	ENSP00000395196.1:p.Leu264=
ENST00000562402.1:n.396G>C
ENST00000563232.1:c.792G>C	ENSP00000456218.1:p.Leu264=
ENST00000563459.5:c.792G>C	ENSP00000456467.1:p.Leu264=
ENST00000564501.5:c.792G>C	ENSP00000457107.1:p.Leu264=
ENST00000564987.1:n.416G>C
ENST00000565344.1:n.165G>C
NM_001083614.1:c.792G>C	NP_001077083.1:p.Leu264=
NM_001308211.1:c.792G>C	NP_001295140.1:p.Leu264=
NR_003501.1:n.824G>C
XM_011545738.1:c.720G>C	XP_011544040.1:p.Leu240=
XM_011545739.1:c.513G>C	XP_011544041.1:p.Leu171=
XR_001751841.1:n.1114G>C
NM_001083614.2:c.792G>C MANE Select	NP_001077083.1:p.Leu264=
NR_003501.2:n.799G>C