Canonical Allele Identifier: CA4386788

Gene: TFR2

Linked Data

• ClinVar Variation Id: 696938
• ClinVar RCV Id: RCV000863562
• dbSNP Id: rs754313308
• ExAC: 7:100231031 G / T
• gnomAD v2: 7-100231031-G-T
• gnomAD v3: 7-100633408-G-T
• gnomAD v4: 7-100633408-G-T
• MyVariant Identifiers: chr7:g.100231031G>T (hg19) ; chr7:g.100633408G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633408G>T , CM000669.2:g.100633408G>T	GRCh38
NC_000007.13:g.100231031G>T , CM000669.1:g.100231031G>T	GRCh37
NC_000007.12:g.100068967G>T	NCBI36
NG_007989.1:g.13143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.614+8C>A MANE Select	ENSP00000223051.3:n.614+8C>A
ENST00000223051.7:c.614+8C>A	ENSP00000223051.3:n.614+8C>A
ENST00000431692.5:c.614+8C>A	ENSP00000413905.1:n.614+8C>A
ENST00000462107.1:c.614+8C>A	ENSP00000420525.1:n.614+8C>A
ENST00000465294.5:n.619+8C>A
ENST00000473571.1:n.1C>A
ENST00000475011.1:n.143+8C>A
ENST00000476304.5:n.235+8C>A
NM_001206855.1:c.101+8C>A	NP_001193784.1:n.101+8C>A
NM_003227.3:c.614+8C>A	NP_003218.2:n.614+8C>A
XM_005250553.3:c.614+8C>A	XP_005250610.1:n.614+8C>A
XM_005250554.3:c.614+8C>A	XP_005250611.1:n.614+8C>A
NM_001206855.2:c.101+8C>A	NP_001193784.1:n.101+8C>A
XM_005250553.4:c.614+8C>A	XP_005250610.1:n.614+8C>A
XM_017012573.1:c.614+8C>A	XP_016868062.1:n.614+8C>A
NM_003227.4:c.614+8C>A MANE Select	NP_003218.2:n.614+8C>A
NM_001206855.3:c.101+8C>A	NP_001193784.1:n.101+8C>A