Canonical Allele Identifier: CA411443397
Gene: RAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 464885
ClinVar RCV Id: RCV000735310 RCV001092009 RCV000541785 RCV001254813 RCV003156104 RCV003224325
dbSNP Id: rs1555908409
gnomAD v4: 22-37232842-C-T
MyVariant Identifiers: chr22:g.37628882C>T (hg19) chr22:g.37232842C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37232842C>T , CM000684.2:g.37232842C>T GRCh38
NC_000022.10:g.37628882C>T , CM000684.1:g.37628882C>T GRCh37
NC_000022.9:g.35958828C>T NCBI36
NG_007288.1:g.16424G>A , LRG_97:g.16424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699915.1:n.242G>A
ENST00000249071.11:c.184G>A MANE Select ENSP00000249071.6:p.Glu62Lys
ENST00000249071.10:c.184G>A ENSP00000249071.6:p.Glu62Lys
ENST00000405484.5:c.163G>A ENSP00000385590.1:p.Glu55Lys
ENST00000406508.5:c.52G>A ENSP00000385270.1:p.Glu18Lys
ENST00000441619.5:c.184G>A ENSP00000403778.1:p.Glu62Lys
ENST00000469532.1:n.314G>A
NM_002872.4:c.184G>A NP_002863.1:p.Glu62Lys
XM_006724286.2:c.184G>A XP_006724349.1:p.Glu62Lys
XM_006724286.3:c.184G>A XP_006724349.1:p.Glu62Lys
NM_002872.5:c.184G>A MANE Select NP_002863.1:p.Glu62Lys
Search 100 bp 5'
Search 100 bp 3'