Canonical Allele Identifier: CA368534184

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2880862
• ClinVar RCV Id: RCV003750415
• gnomAD v4: 7-100633125-T-C
• MyVariant Identifiers: chr7:g.100230748T>C (hg19) ; chr7:g.100633125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633125T>C , CM000669.2:g.100633125T>C	GRCh38
NC_000007.13:g.100230748T>C , CM000669.1:g.100230748T>C	GRCh37
NC_000007.12:g.100068684T>C	NCBI36
NG_007989.1:g.13426A>G

Transcript Alleles

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