Canonical Allele Identifier: CA484802351
Community Standard Title: NM_024537.4(CARS2):c.606C>T (p.Asp202=)
Gene: CARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110683100G>A , CM000675.2:g.110683100G>A GRCh38
NC_000013.10:g.111335447G>A , CM000675.1:g.111335447G>A GRCh37
NC_000013.9:g.110133448G>A NCBI36
NG_042045.1:g.28081C>T
NG_042045.2:g.35502C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024537.4:c.606C>T MANE Select NP_078813.1:p.Asp202=
ENST00000257347.9:c.606C>T MANE Select ENSP00000257347.4:p.Asp202=
NM_001352252.1:c.-181C>T NP_001339181.1:n.-181C>T
NM_001352252.2:c.-181C>T NP_001339181.1:n.-181C>T
NM_001352253.1:c.606C>T NP_001339182.1:p.Asp202=
NM_001352253.2:c.606C>T NP_001339182.1:p.Asp202=
NM_001352253.3:c.606C>T NP_001339182.1:p.Asp202=
NM_024537.2:c.606C>T NP_078813.1:p.Asp202=
NM_024537.3:c.606C>T NP_078813.1:p.Asp202=
NR_147941.1:n.577C>T
NR_147942.1:n.693C>T
NR_147942.2:n.629C>T
ENST00000257347.8:c.606C>T ENSP00000257347.4:p.Asp202=
ENST00000465145.5:n.531C>T
ENST00000481787.6:n.40C>T
ENST00000535398.5:n.798C>T
ENST00000539269.5:c.616C>T
ENST00000541443.5:n.517C>T
ENST00000544488.5:n.421C>T
XM_006719953.2:c.267C>T XP_006720016.1:p.Asp89=
XM_006719953.3:c.267C>T XP_006720016.1:p.Asp89=
XM_011521114.1:c.606C>T XP_011519416.1:p.Asp202=
XM_011521115.1:c.267C>T XP_011519417.1:p.Asp89=
XM_011521116.1:c.261C>T XP_011519418.1:p.Asp87=
XM_011521117.1:c.606C>T XP_011519419.1:p.Asp202=
XM_011521117.3:c.606C>T XP_011519419.1:p.Asp202=
XM_011521118.1:c.606C>T XP_011519420.1:p.Asp202=
XM_011521118.3:c.606C>T XP_011519420.1:p.Asp202=
XM_011521119.1:c.606C>T XP_011519421.1:p.Asp202=
XM_011521120.1:c.-181C>T XP_011519422.1:n.-181C>T
XM_017020741.1:c.267C>T XP_016876230.1:p.Asp89=
XM_017020742.2:c.606C>T XP_016876231.1:p.Asp202=
XM_024449409.1:c.-181C>T XP_024305177.1:n.-181C>T
XR_001749664.2:n.646C>T
XR_001749665.2:n.646C>T
XR_001749666.2:n.646C>T
XR_001749667.2:n.646C>T
XR_001749668.2:n.646C>T
XR_002957472.1:n.646C>T
XR_243047.2:n.629C>T
XR_243047.3:n.646C>T
XR_243048.3:n.629C>T
XR_243048.4:n.646C>T
XR_243049.3:n.629C>T
XR_243049.4:n.646C>T
XR_243051.2:n.629C>T
XR_243051.3:n.646C>T