Canonical Allele Identifier: CA8689341

Gene: TBX2

Linked Data

• ClinVar Variation Id: 773592
• ClinVar RCV Id: RCV000953373 ; RCV002502948
• dbSNP Id: rs140610908
• ExAC: 17:59482723 G / A
• gnomAD v2: 17-59482723-G-A
• gnomAD v3: 17-61405362-G-A
• gnomAD v4: 17-61405362-G-A
• MyVariant Identifiers: chr17:g.59482723G>A (hg19) ; chr17:g.61405362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61405362G>A , CM000679.2:g.61405362G>A	GRCh38
NC_000017.10:g.59482723G>A , CM000679.1:g.59482723G>A	GRCh37
NC_000017.9:g.56837505G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240328.4:c.1212G>A MANE Select	ENSP00000240328.3:p.Arg404=
ENST00000240328.3:c.1212G>A	ENSP00000240328.3:p.Arg404=
ENST00000419047.5:c.*749G>A	ENSP00000404781.1:n.*749G>A
ENST00000477081.1:n.1456G>A
NM_005994.3:c.1212G>A	NP_005985.3:p.Arg404=
XM_011525158.1:c.1212G>A	XP_011523460.1:p.Arg404=
XM_011525159.1:c.534G>A	XP_011523461.1:p.Arg178=
NM_005994.4:c.1212G>A MANE Select	NP_005985.3:p.Arg404=