Canonical Allele Identifier: CA4386321

Gene: TFR2

Linked Data

• ClinVar Variation Id: 3008470
• ClinVar RCV Id: RCV003867133
• dbSNP Id: rs563694182
• ExAC: 7:100225352 A / AC
• gnomAD v2: 7-100225352-A-AC
• gnomAD v3: 7-100627729-A-AC
• gnomAD v4: 7-100627729-A-AC
• MyVariant Identifiers: chr7:g.100225353_100225354insC (hg19) ; chr7:g.100225352_100225353insC (hg19) ; chr7:g.100627730_100627731insC (hg38) ; chr7:g.100627729_100627730insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627736dup , CM000669.2:g.100627736dup	GRCh38
NC_000007.13:g.100225359dup , CM000669.1:g.100225359dup	GRCh37
NC_000007.12:g.100063295dup	NCBI36
NG_007989.1:g.18821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1682+14dup MANE Select	ENSP00000223051.3:n.1682+14dup
ENST00000223051.7:c.1682+14dup	ENSP00000223051.3:n.1682+14dup
ENST00000431692.5:c.*357+14dup	ENSP00000413905.1:n.*357+14dup
ENST00000462090.5:n.633+14dup
ENST00000462107.1:c.1682+14dup	ENSP00000420525.1:n.1682+14dup
ENST00000465294.5:n.1517+14dup
ENST00000473374.5:n.755+14dup
ENST00000473963.1:n.711+14dup
ENST00000476304.5:n.1303+14dup
ENST00000490084.5:c.1035+14dup
NM_001206855.1:c.1169+14dup	NP_001193784.1:n.1169+14dup
NM_003227.3:c.1682+14dup	NP_003218.2:n.1682+14dup
XM_005250553.3:c.1682+14dup	XP_005250610.1:n.1682+14dup
XM_005250554.3:c.1682+14dup	XP_005250611.1:n.1682+14dup
XR_927814.1:n.434-3420dup
NM_001206855.2:c.1169+14dup	NP_001193784.1:n.1169+14dup
XM_005250553.4:c.1682+14dup	XP_005250610.1:n.1682+14dup
XM_017012573.1:c.1682+14dup	XP_016868062.1:n.1682+14dup
NM_003227.4:c.1682+14dup MANE Select	NP_003218.2:n.1682+14dup
NM_001206855.3:c.1169+14dup	NP_001193784.1:n.1169+14dup