Canonical Allele Identifier: CA2684109025

Gene: TFR2

Linked Data

• gnomAD v4: 7-100632952-A-ACCCTCCGGTTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632953_100632965dup , CM000669.2:g.100632953_100632965dup	GRCh38
NC_000007.13:g.100230576_100230588dup , CM000669.1:g.100230576_100230588dup	GRCh37
NC_000007.12:g.100068512_100068524dup	NCBI36
NG_007989.1:g.13586_13598dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.849+36_849+48dup MANE Select	ENSP00000223051.3:n.849+36_849+48dup
ENST00000223051.7:c.849+36_849+48dup	ENSP00000223051.3:n.849+36_849+48dup
ENST00000431692.5:c.849+36_849+48dup	ENSP00000413905.1:n.849+36_849+48dup
ENST00000462090.5:n.90+36_90+48dup
ENST00000462107.1:c.849+36_849+48dup	ENSP00000420525.1:n.849+36_849+48dup
ENST00000465294.5:n.854+36_854+48dup
ENST00000473374.5:n.299+36_299+48dup
ENST00000473571.1:n.303+36_303+48dup
ENST00000475011.1:n.414_426dup
ENST00000476304.5:n.470+36_470+48dup
ENST00000490084.5:c.104+36_104+48dup
NM_001206855.1:c.336+36_336+48dup	NP_001193784.1:n.336+36_336+48dup
NM_003227.3:c.849+36_849+48dup	NP_003218.2:n.849+36_849+48dup
XM_005250553.3:c.849+36_849+48dup	XP_005250610.1:n.849+36_849+48dup
XM_005250554.3:c.849+36_849+48dup	XP_005250611.1:n.849+36_849+48dup
XR_927814.1:n.534_546dup
NM_001206855.2:c.336+36_336+48dup	NP_001193784.1:n.336+36_336+48dup
XM_005250553.4:c.849+36_849+48dup	XP_005250610.1:n.849+36_849+48dup
XM_017012573.1:c.849+36_849+48dup	XP_016868062.1:n.849+36_849+48dup
NM_003227.4:c.849+36_849+48dup MANE Select	NP_003218.2:n.849+36_849+48dup
NM_001206855.3:c.336+36_336+48dup	NP_001193784.1:n.336+36_336+48dup