Canonical Allele Identifier: CA2578963532

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2905227
• ClinVar RCV Id: RCV003751286
• gnomAD v4: 7-100633133-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633133C>T , CM000669.2:g.100633133C>T	GRCh38
NC_000007.13:g.100230756C>T , CM000669.1:g.100230756C>T	GRCh37
NC_000007.12:g.100068692C>T	NCBI36
NG_007989.1:g.13418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.727-10G>A MANE Select	ENSP00000223051.3:n.727-10G>A
ENST00000223051.7:c.727-10G>A	ENSP00000223051.3:n.727-10G>A
ENST00000431692.5:c.727-10G>A	ENSP00000413905.1:n.727-10G>A
ENST00000462107.1:c.727-10G>A	ENSP00000420525.1:n.727-10G>A
ENST00000465294.5:n.732-10G>A
ENST00000473374.5:n.177-10G>A
ENST00000473571.1:n.181-10G>A
ENST00000475011.1:n.256-10G>A
ENST00000476304.5:n.348-10G>A
NM_001206855.1:c.214-10G>A	NP_001193784.1:n.214-10G>A
NM_003227.3:c.727-10G>A	NP_003218.2:n.727-10G>A
XM_005250553.3:c.727-10G>A	XP_005250610.1:n.727-10G>A
XM_005250554.3:c.727-10G>A	XP_005250611.1:n.727-10G>A
NM_001206855.2:c.214-10G>A	NP_001193784.1:n.214-10G>A
XM_005250553.4:c.727-10G>A	XP_005250610.1:n.727-10G>A
XM_017012573.1:c.727-10G>A	XP_016868062.1:n.727-10G>A
NM_003227.4:c.727-10G>A MANE Select	NP_003218.2:n.727-10G>A
NM_001206855.3:c.214-10G>A	NP_001193784.1:n.214-10G>A