Canonical Allele Identifier: CA2578963556

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633389-G-GCGCCCCCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633393_100633403dup , CM000669.2:g.100633393_100633403dup	GRCh38
NC_000007.13:g.100231016_100231026dup , CM000669.1:g.100231016_100231026dup	GRCh37
NC_000007.12:g.100068952_100068962dup	NCBI36
NG_007989.1:g.13151_13161dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.614+16_614+26dup MANE Select	ENSP00000223051.3:n.614+16_614+26dup
ENST00000223051.7:c.614+16_614+26dup	ENSP00000223051.3:n.614+16_614+26dup
ENST00000431692.5:c.614+16_614+26dup	ENSP00000413905.1:n.614+16_614+26dup
ENST00000462107.1:c.614+16_614+26dup	ENSP00000420525.1:n.614+16_614+26dup
ENST00000465294.5:n.619+16_619+26dup
ENST00000473374.5:n.5_15dup
ENST00000473571.1:n.9_19dup
ENST00000475011.1:n.143+16_143+26dup
ENST00000476304.5:n.235+16_235+26dup
NM_001206855.1:c.101+16_101+26dup	NP_001193784.1:n.101+16_101+26dup
NM_003227.3:c.614+16_614+26dup	NP_003218.2:n.614+16_614+26dup
XM_005250553.3:c.614+16_614+26dup	XP_005250610.1:n.614+16_614+26dup
XM_005250554.3:c.614+16_614+26dup	XP_005250611.1:n.614+16_614+26dup
NM_001206855.2:c.101+16_101+26dup	NP_001193784.1:n.101+16_101+26dup
XM_005250553.4:c.614+16_614+26dup	XP_005250610.1:n.614+16_614+26dup
XM_017012573.1:c.614+16_614+26dup	XP_016868062.1:n.614+16_614+26dup
NM_003227.4:c.614+16_614+26dup MANE Select	NP_003218.2:n.614+16_614+26dup
NM_001206855.3:c.101+16_101+26dup	NP_001193784.1:n.101+16_101+26dup