Canonical Allele Identifier: CA576714377

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2971824
• ClinVar RCV Id: RCV003832886
• dbSNP Id: rs1398792897
• gnomAD v2: 7-100231021-G-A
• gnomAD v4: 7-100633398-G-A
• MyVariant Identifiers: chr7:g.100231021G>A (hg19) ; chr7:g.100633398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633398G>A , CM000669.2:g.100633398G>A	GRCh38
NC_000007.13:g.100231021G>A , CM000669.1:g.100231021G>A	GRCh37
NC_000007.12:g.100068957G>A	NCBI36
NG_007989.1:g.13153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.614+18C>T MANE Select	ENSP00000223051.3:n.614+18C>T
ENST00000223051.7:c.614+18C>T	ENSP00000223051.3:n.614+18C>T
ENST00000431692.5:c.614+18C>T	ENSP00000413905.1:n.614+18C>T
ENST00000462107.1:c.614+18C>T	ENSP00000420525.1:n.614+18C>T
ENST00000465294.5:n.619+18C>T
ENST00000473374.5:n.7C>T
ENST00000473571.1:n.11C>T
ENST00000475011.1:n.143+18C>T
ENST00000476304.5:n.235+18C>T
NM_001206855.1:c.101+18C>T	NP_001193784.1:n.101+18C>T
NM_003227.3:c.614+18C>T	NP_003218.2:n.614+18C>T
XM_005250553.3:c.614+18C>T	XP_005250610.1:n.614+18C>T
XM_005250554.3:c.614+18C>T	XP_005250611.1:n.614+18C>T
NM_001206855.2:c.101+18C>T	NP_001193784.1:n.101+18C>T
XM_005250553.4:c.614+18C>T	XP_005250610.1:n.614+18C>T
XM_017012573.1:c.614+18C>T	XP_016868062.1:n.614+18C>T
NM_003227.4:c.614+18C>T MANE Select	NP_003218.2:n.614+18C>T
NM_001206855.3:c.101+18C>T	NP_001193784.1:n.101+18C>T