Canonical Allele Identifier: CA2684108918

Gene: TFR2

Linked Data

• gnomAD v4: 7-100632806-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632806A>G , CM000669.2:g.100632806A>G	GRCh38
NC_000007.13:g.100230429A>G , CM000669.1:g.100230429A>G	GRCh37
NC_000007.12:g.100068365A>G	NCBI36
NG_007989.1:g.13745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.849+195T>C MANE Select	ENSP00000223051.3:n.849+195T>C
ENST00000223051.7:c.849+195T>C	ENSP00000223051.3:n.849+195T>C
ENST00000431692.5:c.849+195T>C	ENSP00000413905.1:n.849+195T>C
ENST00000462090.5:n.90+195T>C
ENST00000462107.1:c.849+195T>C	ENSP00000420525.1:n.849+195T>C
ENST00000465294.5:n.854+195T>C
ENST00000473374.5:n.299+195T>C
ENST00000473571.1:n.303+195T>C
ENST00000475011.1:n.573T>C
ENST00000476304.5:n.470+195T>C
ENST00000490084.5:c.104+195T>C
NM_001206855.1:c.336+195T>C	NP_001193784.1:n.336+195T>C
NM_003227.3:c.849+195T>C	NP_003218.2:n.849+195T>C
XM_005250553.3:c.849+195T>C	XP_005250610.1:n.849+195T>C
XM_005250554.3:c.849+195T>C	XP_005250611.1:n.849+195T>C
XR_927814.1:n.504-117A>G
NM_001206855.2:c.336+195T>C	NP_001193784.1:n.336+195T>C
XM_005250553.4:c.849+195T>C	XP_005250610.1:n.849+195T>C
XM_017012573.1:c.849+195T>C	XP_016868062.1:n.849+195T>C
NM_003227.4:c.849+195T>C MANE Select	NP_003218.2:n.849+195T>C
NM_001206855.3:c.336+195T>C	NP_001193784.1:n.336+195T>C