Canonical Allele Identifier: CA7051556

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110641553dup , CM000675.2:g.110641553dup	GRCh38
NC_000013.10:g.111293900dup , CM000675.1:g.111293900dup	GRCh37
NC_000013.9:g.110091901dup	NCBI36
NG_042045.1:g.69632dup
NG_042045.2:g.77053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1683dup MANE Select	ENSP00000257347.4:p.Ser562IlefsTer?
ENST00000257347.8:c.1683dup	ENSP00000257347.4:p.Ser562IlefsTer?
ENST00000375781.9:n.2615dup
ENST00000481787.6:n.1117dup
ENST00000535516.5:n.2183dup
ENST00000537802.5:n.3095dup
ENST00000540006.5:n.1348dup
ENST00000541239.5:n.3379dup
NM_024537.2:c.1683dup	NP_078813.1:p.Ser562IlefsTer?
NM_024537.3:c.1683dup	NP_078813.1:p.Ser562IlefsTer?
XM_006719953.2:c.1344dup	XP_006720016.1:p.Ser449IlefsTer?
XM_011521115.1:c.1344dup	XP_011519417.1:p.Ser449IlefsTer?
XM_011521116.1:c.1338dup	XP_011519418.1:p.Ser447IlefsTer?
XM_011521120.1:c.897dup	XP_011519422.1:p.Ser300IlefsTer?
XR_243047.2:n.1824dup
XR_243048.3:n.1829dup
XR_243049.3:n.1947dup
XR_243051.2:n.1639dup
NM_001352252.1:c.897dup	NP_001339181.1:p.Ser300IlefsTer?
NR_147941.1:n.1767dup
NR_147942.1:n.2166dup
XM_006719953.3:c.1344dup	XP_006720016.1:p.Ser449IlefsTer?
XM_017020741.1:c.1344dup	XP_016876230.1:p.Ser449IlefsTer?
XM_024449409.1:c.897dup	XP_024305177.1:p.Ser300IlefsTer?
XR_001749664.2:n.2382dup
XR_002957472.1:n.2789dup
XR_243047.3:n.1841dup
XR_243048.4:n.1846dup
XR_243049.4:n.1964dup
XR_243051.3:n.1656dup
NM_024537.4:c.1683dup MANE Select	NP_078813.1:p.Ser562IlefsTer?
NR_147942.2:n.2102dup
NM_001352252.2:c.897dup	NP_001339181.1:p.Ser300IlefsTer?