Canonical Allele Identifier: CA388739165

Gene: CARS2

Linked Data

• MyVariant Identifiers: chr13:g.111293947G>C (hg19) ; chr13:g.110641600G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110641600G>C , CM000675.2:g.110641600G>C	GRCh38
NC_000013.10:g.111293947G>C , CM000675.1:g.111293947G>C	GRCh37
NC_000013.9:g.110091948G>C	NCBI36
NG_042045.1:g.69581C>G
NG_042045.2:g.77002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1632C>G MANE Select	ENSP00000257347.4:p.Ser544Arg
ENST00000257347.8:c.1632C>G	ENSP00000257347.4:p.Ser544Arg
ENST00000375781.9:n.2564C>G
ENST00000481787.6:n.1066C>G
ENST00000487253.6:c.831C>G
ENST00000535516.5:n.2132C>G
ENST00000537802.5:n.3044C>G
ENST00000540006.5:n.1297C>G
ENST00000541239.5:n.3328C>G
ENST00000542774.5:n.631C>G
NM_024537.2:c.1632C>G	NP_078813.1:p.Ser544Arg
NM_024537.3:c.1632C>G	NP_078813.1:p.Ser544Arg
XM_006719953.2:c.1293C>G	XP_006720016.1:p.Ser431Arg
XM_011521115.1:c.1293C>G	XP_011519417.1:p.Ser431Arg
XM_011521116.1:c.1287C>G	XP_011519418.1:p.Ser429Arg
XM_011521120.1:c.846C>G	XP_011519422.1:p.Ser282Arg
XR_243047.2:n.1773C>G
XR_243048.3:n.1778C>G
XR_243049.3:n.1896C>G
XR_243051.2:n.1588C>G
NM_001352252.1:c.846C>G	NP_001339181.1:p.Ser282Arg
NR_147941.1:n.1716C>G
NR_147942.1:n.2115C>G
XM_006719953.3:c.1293C>G	XP_006720016.1:p.Ser431Arg
XM_017020741.1:c.1293C>G	XP_016876230.1:p.Ser431Arg
XM_024449409.1:c.846C>G	XP_024305177.1:p.Ser282Arg
XR_001749664.2:n.2331C>G
XR_002957472.1:n.2738C>G
XR_243047.3:n.1790C>G
XR_243048.4:n.1795C>G
XR_243049.4:n.1913C>G
XR_243051.3:n.1605C>G
NM_024537.4:c.1632C>G MANE Select	NP_078813.1:p.Ser544Arg
NR_147942.2:n.2051C>G
NM_001352252.2:c.846C>G	NP_001339181.1:p.Ser282Arg