Canonical Allele Identifier: CA388739178

Gene: CARS2

Linked Data

• gnomAD v4: 13-110641602-T-G
• MyVariant Identifiers: chr13:g.111293949T>G (hg19) ; chr13:g.110641602T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110641602T>G , CM000675.2:g.110641602T>G	GRCh38
NC_000013.10:g.111293949T>G , CM000675.1:g.111293949T>G	GRCh37
NC_000013.9:g.110091950T>G	NCBI36
NG_042045.1:g.69579A>C
NG_042045.2:g.77000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1630A>C MANE Select	ENSP00000257347.4:p.Ser544Arg
ENST00000257347.8:c.1630A>C	ENSP00000257347.4:p.Ser544Arg
ENST00000375781.9:n.2562A>C
ENST00000481787.6:n.1064A>C
ENST00000487253.6:c.829A>C
ENST00000535516.5:n.2130A>C
ENST00000537802.5:n.3042A>C
ENST00000540006.5:n.1295A>C
ENST00000541239.5:n.3326A>C
ENST00000542774.5:n.629A>C
NM_024537.2:c.1630A>C	NP_078813.1:p.Ser544Arg
NM_024537.3:c.1630A>C	NP_078813.1:p.Ser544Arg
XM_006719953.2:c.1291A>C	XP_006720016.1:p.Ser431Arg
XM_011521115.1:c.1291A>C	XP_011519417.1:p.Ser431Arg
XM_011521116.1:c.1285A>C	XP_011519418.1:p.Ser429Arg
XM_011521120.1:c.844A>C	XP_011519422.1:p.Ser282Arg
XR_243047.2:n.1771A>C
XR_243048.3:n.1776A>C
XR_243049.3:n.1894A>C
XR_243051.2:n.1586A>C
NM_001352252.1:c.844A>C	NP_001339181.1:p.Ser282Arg
NR_147941.1:n.1714A>C
NR_147942.1:n.2113A>C
XM_006719953.3:c.1291A>C	XP_006720016.1:p.Ser431Arg
XM_017020741.1:c.1291A>C	XP_016876230.1:p.Ser431Arg
XM_024449409.1:c.844A>C	XP_024305177.1:p.Ser282Arg
XR_001749664.2:n.2329A>C
XR_002957472.1:n.2736A>C
XR_243047.3:n.1788A>C
XR_243048.4:n.1793A>C
XR_243049.4:n.1911A>C
XR_243051.3:n.1603A>C
NM_024537.4:c.1630A>C MANE Select	NP_078813.1:p.Ser544Arg
NR_147942.2:n.2049A>C
NM_001352252.2:c.844A>C	NP_001339181.1:p.Ser282Arg