Canonical Allele Identifier: CA411443397

Gene: RAC2

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)

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