Canonical Allele Identifier: CA576450407

Gene: TFR2

Linked Data

• dbSNP Id: rs1188644575
• gnomAD v2: 7-100224360-G-T
• gnomAD v4: 7-100626737-G-T
• MyVariant Identifiers: chr7:g.100224360G>T (hg19) ; chr7:g.100626737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626737G>T , CM000669.2:g.100626737G>T	GRCh38
NC_000007.13:g.100224360G>T , CM000669.1:g.100224360G>T	GRCh37
NC_000007.12:g.100062296G>T	NCBI36
NG_007989.1:g.19814C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136+26C>A MANE Select	ENSP00000223051.3:n.2136+26C>A
ENST00000223051.7:c.2136+26C>A	ENSP00000223051.3:n.2136+26C>A
ENST00000431692.5:c.*811+26C>A	ENSP00000413905.1:n.*811+26C>A
ENST00000461176.1:n.508C>A
ENST00000462090.5:n.1172+26C>A
ENST00000462107.1:c.2136+26C>A	ENSP00000420525.1:n.2136+26C>A
ENST00000465294.5:n.2056+26C>A
ENST00000476304.5:n.1757+26C>A
ENST00000490084.5:c.1489+26C>A
NM_001206855.1:c.1623+26C>A	NP_001193784.1:n.1623+26C>A
NM_003227.3:c.2136+26C>A	NP_003218.2:n.2136+26C>A
XM_005250553.3:c.2136+26C>A	XP_005250610.1:n.2136+26C>A
XM_005250554.3:c.2136+26C>A	XP_005250611.1:n.2136+26C>A
XR_927814.1:n.433+4183G>T
NM_001206855.2:c.1623+26C>A	NP_001193784.1:n.1623+26C>A
XM_005250553.4:c.2136+26C>A	XP_005250610.1:n.2136+26C>A
XM_017012573.1:c.2136+26C>A	XP_016868062.1:n.2136+26C>A
NM_003227.4:c.2136+26C>A MANE Select	NP_003218.2:n.2136+26C>A
NM_001206855.3:c.1623+26C>A	NP_001193784.1:n.1623+26C>A