Canonical Allele Identifier: CA384492167

Gene: ARID2

Linked Data

• dbSNP Id: rs2138181273
• gnomAD v4: 12-45852769-G-T
• MyVariant Identifiers: chr12:g.46246552G>T (hg19) ; chr12:g.45852769G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852769G>T , CM000674.2:g.45852769G>T	GRCh38
NC_000012.11:g.46246552G>T , CM000674.1:g.46246552G>T	GRCh37
NC_000012.10:g.44532819G>T	NCBI36
NG_052800.1:g.128105G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4646G>T	ENSP00000415650.3:p.Cys1549Phe
ENST00000457135.2:c.855G>T
ENST00000334344.11:c.4646G>T MANE Select	ENSP00000335044.6:p.Cys1549Phe
ENST00000422737.6:c.4567G>T
ENST00000334344.10:c.4646G>T	ENSP00000335044.6:p.Cys1549Phe
ENST00000422737.5:c.4199G>T	ENSP00000415650.1:p.Cys1400Phe
ENST00000444670.5:c.3476G>T	ENSP00000397307.1:p.Cys1159Phe
ENST00000457135.1:c.470G>T	ENSP00000388357.1:p.Cys157Phe
ENST00000479608.5:n.3937G>T
NM_152641.2:c.4646G>T	NP_689854.2:p.Cys1549Phe
XM_006719272.2:c.4646G>T	XP_006719335.1:p.Cys1549Phe
XM_011538025.1:c.3014G>T	XP_011536327.1:p.Cys1005Phe
XR_944505.1:n.4794G>T
NM_001347839.1:c.4646G>T	NP_001334768.1:p.Cys1549Phe
NM_152641.3:c.4646G>T	NP_689854.2:p.Cys1549Phe
XM_006719272.4:c.4646G>T	XP_006719335.1:p.Cys1549Phe
XR_944505.3:n.4777G>T
NM_152641.4:c.4646G>T MANE Select	NP_689854.2:p.Cys1549Phe
NM_001347839.2:c.4646G>T	NP_001334768.1:p.Cys1549Phe