Canonical Allele Identifier: CA2684107145

Gene: TFR2

Linked Data

• dbSNP Id: rs1803355085
• gnomAD v4: 7-100629123-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100629123A>G , CM000669.2:g.100629123A>G	GRCh38
NC_000007.13:g.100226746A>G , CM000669.1:g.100226746A>G	GRCh37
NC_000007.12:g.100064682A>G	NCBI36
NG_007989.1:g.17428T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.1390+130T>C MANE Select	ENSP00000223051.3:n.1390+130T>C
ENST00000223051.7:c.1390+130T>C	ENSP00000223051.3:n.1390+130T>C
ENST00000431692.5:c.*65+130T>C	ENSP00000413905.1:n.*65+130T>C
ENST00000462090.5:n.255-817T>C
ENST00000462107.1:c.1390+130T>C	ENSP00000420525.1:n.1390+130T>C
ENST00000465294.5:n.1138+130T>C
ENST00000473374.5:n.464-817T>C
ENST00000473963.1:n.420-817T>C
ENST00000476304.5:n.1011+130T>C
ENST00000490084.5:c.743+130T>C
NM_001206855.1:c.877+130T>C	NP_001193784.1:n.877+130T>C
NM_003227.3:c.1390+130T>C	NP_003218.2:n.1390+130T>C
XM_005250553.3:c.1390+130T>C	XP_005250610.1:n.1390+130T>C
XM_005250554.3:c.1390+130T>C	XP_005250611.1:n.1390+130T>C
XR_927814.1:n.434-2033A>G
NM_001206855.2:c.877+130T>C	NP_001193784.1:n.877+130T>C
XM_005250553.4:c.1390+130T>C	XP_005250610.1:n.1390+130T>C
XM_017012573.1:c.1390+130T>C	XP_016868062.1:n.1390+130T>C
NM_003227.4:c.1390+130T>C MANE Select	NP_003218.2:n.1390+130T>C
NM_001206855.3:c.877+130T>C	NP_001193784.1:n.877+130T>C