Canonical Allele Identifier: CA384491759

Gene: ARID2

Linked Data

• dbSNP Id: rs2138179826
• gnomAD v4: 12-45852575-A-G
• MyVariant Identifiers: chr12:g.46246358A>G (hg19) ; chr12:g.45852575A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852575A>G , CM000674.2:g.45852575A>G	GRCh38
NC_000012.11:g.46246358A>G , CM000674.1:g.46246358A>G	GRCh37
NC_000012.10:g.44532625A>G	NCBI36
NG_052800.1:g.127911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4452A>G	ENSP00000415650.3:p.Ile1484Met
ENST00000457135.2:c.661A>G
ENST00000334344.11:c.4452A>G MANE Select	ENSP00000335044.6:p.Ile1484Met
ENST00000422737.6:c.4373A>G
ENST00000334344.10:c.4452A>G	ENSP00000335044.6:p.Ile1484Met
ENST00000422737.5:c.4005A>G	ENSP00000415650.1:p.Ile1335Met
ENST00000444670.5:c.3282A>G	ENSP00000397307.1:p.Ile1094Met
ENST00000457135.1:c.276A>G	ENSP00000388357.1:p.Ile92Met
ENST00000479608.5:n.3743A>G
NM_152641.2:c.4452A>G	NP_689854.2:p.Ile1484Met
XM_006719272.2:c.4452A>G	XP_006719335.1:p.Ile1484Met
XM_011538025.1:c.2820A>G	XP_011536327.1:p.Ile940Met
XR_944505.1:n.4600A>G
NM_001347839.1:c.4452A>G	NP_001334768.1:p.Ile1484Met
NM_152641.3:c.4452A>G	NP_689854.2:p.Ile1484Met
XM_006719272.4:c.4452A>G	XP_006719335.1:p.Ile1484Met
XR_944505.3:n.4583A>G
NM_152641.4:c.4452A>G MANE Select	NP_689854.2:p.Ile1484Met
NM_001347839.2:c.4452A>G	NP_001334768.1:p.Ile1484Met