Canonical Allele Identifier: CA1105065233

Gene: TFR2

Linked Data

• dbSNP Id: rs1803262909
• gnomAD v3: 7-100626749-G-A
• gnomAD v4: 7-100626749-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626749G>A , CM000669.2:g.100626749G>A	GRCh38
NC_000007.13:g.100224372G>A , CM000669.1:g.100224372G>A	GRCh37
NC_000007.12:g.100062308G>A	NCBI36
NG_007989.1:g.19802C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136+14C>T MANE Select	ENSP00000223051.3:n.2136+14C>T
ENST00000223051.7:c.2136+14C>T	ENSP00000223051.3:n.2136+14C>T
ENST00000431692.5:c.*811+14C>T	ENSP00000413905.1:n.*811+14C>T
ENST00000461176.1:n.496C>T
ENST00000462090.5:n.1172+14C>T
ENST00000462107.1:c.2136+14C>T	ENSP00000420525.1:n.2136+14C>T
ENST00000465294.5:n.2056+14C>T
ENST00000476304.5:n.1757+14C>T
ENST00000490084.5:c.1489+14C>T
NM_001206855.1:c.1623+14C>T	NP_001193784.1:n.1623+14C>T
NM_003227.3:c.2136+14C>T	NP_003218.2:n.2136+14C>T
XM_005250553.3:c.2136+14C>T	XP_005250610.1:n.2136+14C>T
XM_005250554.3:c.2136+14C>T	XP_005250611.1:n.2136+14C>T
XR_927814.1:n.433+4195G>A
NM_001206855.2:c.1623+14C>T	NP_001193784.1:n.1623+14C>T
XM_005250553.4:c.2136+14C>T	XP_005250610.1:n.2136+14C>T
XM_017012573.1:c.2136+14C>T	XP_016868062.1:n.2136+14C>T
NM_003227.4:c.2136+14C>T MANE Select	NP_003218.2:n.2136+14C>T
NM_001206855.3:c.1623+14C>T	NP_001193784.1:n.1623+14C>T