Canonical Allele Identifier: CA2684107190

Gene: TFR2

Linked Data

• gnomAD v4: 7-100629187-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100629187C>A , CM000669.2:g.100629187C>A	GRCh38
NC_000007.13:g.100226810C>A , CM000669.1:g.100226810C>A	GRCh37
NC_000007.12:g.100064746C>A	NCBI36
NG_007989.1:g.17364G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.1390+66G>T MANE Select	ENSP00000223051.3:n.1390+66G>T
ENST00000223051.7:c.1390+66G>T	ENSP00000223051.3:n.1390+66G>T
ENST00000431692.5:c.*65+66G>T	ENSP00000413905.1:n.*65+66G>T
ENST00000462090.5:n.255-881G>T
ENST00000462107.1:c.1390+66G>T	ENSP00000420525.1:n.1390+66G>T
ENST00000465294.5:n.1138+66G>T
ENST00000473374.5:n.464-881G>T
ENST00000473963.1:n.420-881G>T
ENST00000476304.5:n.1011+66G>T
ENST00000490084.5:c.743+66G>T
NM_001206855.1:c.877+66G>T	NP_001193784.1:n.877+66G>T
NM_003227.3:c.1390+66G>T	NP_003218.2:n.1390+66G>T
XM_005250553.3:c.1390+66G>T	XP_005250610.1:n.1390+66G>T
XM_005250554.3:c.1390+66G>T	XP_005250611.1:n.1390+66G>T
XR_927814.1:n.434-1969C>A
NM_001206855.2:c.877+66G>T	NP_001193784.1:n.877+66G>T
XM_005250553.4:c.1390+66G>T	XP_005250610.1:n.1390+66G>T
XM_017012573.1:c.1390+66G>T	XP_016868062.1:n.1390+66G>T
NM_003227.4:c.1390+66G>T MANE Select	NP_003218.2:n.1390+66G>T
NM_001206855.3:c.877+66G>T	NP_001193784.1:n.877+66G>T