Canonical Allele Identifier: CA7051567

Gene: CARS2

Linked Data

• ClinVar Variation Id: 475624
• ClinVar RCV Id: RCV000524838 ; RCV001584347 ; RCV003403336 ; RCV003925718 ; RCV004024338
• dbSNP Id: rs141184379
• ExAC: 13:111293947 G / T
• gnomAD v2: 13-111293947-G-T
• gnomAD v3: 13-110641600-G-T
• gnomAD v4: 13-110641600-G-T
• MyVariant Identifiers: chr13:g.111293947G>T (hg19) ; chr13:g.110641600G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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