Canonical Allele Identifier: CA2684105735

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620609-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620609T>A , CM000669.2:g.100620609T>A	GRCh38
NC_000007.13:g.100218232T>A , CM000669.1:g.100218232T>A	GRCh37
NC_000007.12:g.100056168T>A	NCBI36
NG_007989.1:g.25942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*248A>T MANE Select	ENSP00000223051.3:n.*248A>T
ENST00000223051.7:c.*248A>T	ENSP00000223051.3:n.*248A>T
ENST00000431692.5:c.*1329A>T	ENSP00000413905.1:n.*1329A>T
ENST00000462090.5:n.1690A>T
ENST00000462107.1:c.*248A>T	ENSP00000420525.1:n.*248A>T
ENST00000465294.5:n.2574A>T
ENST00000476304.5:n.2275A>T
ENST00000490084.5:c.2007A>T
NM_001206855.1:c.*248A>T	NP_001193784.1:n.*248A>T
NM_003227.3:c.*248A>T	NP_003218.2:n.*248A>T
XM_005250553.3:c.*248A>T	XP_005250610.1:n.*248A>T
NM_001206855.2:c.*248A>T	NP_001193784.1:n.*248A>T
XM_005250553.4:c.*248A>T	XP_005250610.1:n.*248A>T
XM_017012573.1:c.*248A>T	XP_016868062.1:n.*248A>T
NM_003227.4:c.*248A>T MANE Select	NP_003218.2:n.*248A>T
NM_001206855.3:c.*248A>T	NP_001193784.1:n.*248A>T