Canonical Allele Identifier: CA830497695

Gene: TFR2

Linked Data

• dbSNP Id: rs1188322780
• gnomAD v4: 7-100620613-A-AG
• MyVariant Identifiers: chr7:g.100218236_100218237insG (hg19) ; chr7:g.100620613_100620614insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620616dup , CM000669.2:g.100620616dup	GRCh38
NC_000007.13:g.100218239dup , CM000669.1:g.100218239dup	GRCh37
NC_000007.12:g.100056175dup	NCBI36
NG_007989.1:g.25937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*243dup MANE Select	ENSP00000223051.3:n.*243dup
ENST00000223051.7:c.*243dup	ENSP00000223051.3:n.*243dup
ENST00000431692.5:c.*1324dup	ENSP00000413905.1:n.*1324dup
ENST00000462090.5:n.1685dup
ENST00000462107.1:c.*243dup	ENSP00000420525.1:n.*243dup
ENST00000465294.5:n.2569dup
ENST00000476304.5:n.2270dup
ENST00000490084.5:c.2002dup
NM_001206855.1:c.*243dup	NP_001193784.1:n.*243dup
NM_003227.3:c.*243dup	NP_003218.2:n.*243dup
XM_005250553.3:c.*243dup	XP_005250610.1:n.*243dup
NM_001206855.2:c.*243dup	NP_001193784.1:n.*243dup
XM_005250553.4:c.*243dup	XP_005250610.1:n.*243dup
XM_017012573.1:c.*243dup	XP_016868062.1:n.*243dup
NM_003227.4:c.*243dup MANE Select	NP_003218.2:n.*243dup
NM_001206855.3:c.*243dup	NP_001193784.1:n.*243dup