Canonical Allele Identifier: CA9429036

Gene: PLEKHG2

Linked Data

• ClinVar Variation Id: 445461
• ClinVar RCV Id: RCV000514381
• dbSNP Id: rs368379229
• ExAC: 19:39905907 C / T
• gnomAD v2: 19-39905907-C-T
• gnomAD v3: 19-39415267-C-T
• gnomAD v4: 19-39415267-C-T
• MyVariant Identifiers: chr19:g.39905907C>T (hg19) ; chr19:g.39415267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39415267C>T , CM000681.2:g.39415267C>T	GRCh38
NC_000019.9:g.39905907C>T , CM000681.1:g.39905907C>T	GRCh37
NC_000019.8:g.44597747C>T	NCBI36
NG_054904.1:g.7686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425673.6:c.378+7C>T MANE Select	ENSP00000392906.2:n.378+7C>T
ENST00000205135.8:c.68+7C>T
ENST00000409797.6:c.378+7C>T	ENSP00000386492.1:n.378+7C>T
ENST00000425673.5:c.378+7C>T	ENSP00000392906.2:n.378+7C>T
ENST00000451354.6:c.381+7C>T	ENSP00000412818.1:n.381+7C>T
ENST00000458508.6:c.201+7C>T	ENSP00000408857.2:n.201+7C>T
NM_022835.2:c.378+7C>T	NP_073746.2:n.378+7C>T
XM_005259163.1:c.378+7C>T	XP_005259220.1:n.378+7C>T
XM_006723332.1:c.381+7C>T	XP_006723395.1:n.381+7C>T
XM_006723333.1:c.378+7C>T	XP_006723396.1:n.378+7C>T
XM_006723334.1:c.201+7C>T	XP_006723397.1:n.201+7C>T
XM_011527231.1:c.381+7C>T	XP_011525533.1:n.381+7C>T
XM_011527232.1:c.381+7C>T	XP_011525534.1:n.381+7C>T
XM_011527233.1:c.381+7C>T	XP_011525535.1:n.381+7C>T
XM_011527234.1:c.381+7C>T	XP_011525536.1:n.381+7C>T
NM_001351693.1:c.201+7C>T	NP_001338622.1:n.201+7C>T
NM_001351694.1:c.378+7C>T	NP_001338623.1:n.378+7C>T
XM_005259163.2:c.378+7C>T	XP_005259220.1:n.378+7C>T
XM_006723334.2:c.201+7C>T	XP_006723397.1:n.201+7C>T
XM_011527232.2:c.381+7C>T	XP_011525534.1:n.381+7C>T
XM_017027150.1:c.381+7C>T	XP_016882639.1:n.381+7C>T
XM_017027151.1:c.381+7C>T	XP_016882640.1:n.381+7C>T
XR_002958344.1:n.1234+7C>T
NM_022835.3:c.378+7C>T MANE Select	NP_073746.2:n.378+7C>T
NM_001351693.2:c.201+7C>T	NP_001338622.1:n.201+7C>T
NM_001351694.2:c.378+7C>T	NP_001338623.1:n.378+7C>T