Canonical Allele Identifier: CA279517684

Gene: EARS2

Linked Data

• dbSNP Id: rs764481144
• gnomAD v2: 16-23546471-G-A
• gnomAD v4: 16-23535150-G-A
• MyVariant Identifiers: chr16:g.23546471G>A (hg19) ; chr16:g.23535150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535150G>A , CM000678.2:g.23535150G>A	GRCh38
NC_000016.9:g.23546471G>A , CM000678.1:g.23546471G>A	GRCh37
NC_000016.8:g.23453972G>A	NCBI36
NG_027752.1:g.27226C>T
NG_027752.2:g.27226C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.696C>T MANE Select	ENSP00000395196.2:p.Cys232=
ENST00000674054.1:c.696C>T	ENSP00000501251.1:p.Cys232=
ENST00000449606.5:c.696C>T	ENSP00000395196.1:p.Cys232=
ENST00000562402.1:n.300C>T
ENST00000563232.1:c.696C>T	ENSP00000456218.1:p.Cys232=
ENST00000563459.5:c.696C>T	ENSP00000456467.1:p.Cys232=
ENST00000564501.5:c.696C>T	ENSP00000457107.1:p.Cys232=
ENST00000564987.1:n.320C>T
ENST00000565344.1:n.69C>T
NM_001083614.1:c.696C>T	NP_001077083.1:p.Cys232=
NM_001308211.1:c.696C>T	NP_001295140.1:p.Cys232=
NR_003501.1:n.728C>T
XM_011545738.1:c.624C>T	XP_011544040.1:p.Cys208=
XM_011545739.1:c.417C>T	XP_011544041.1:p.Cys139=
XR_001751841.1:n.1018C>T
NM_001083614.2:c.696C>T MANE Select	NP_001077083.1:p.Cys232=
NR_003501.2:n.703C>T