Canonical Allele Identifier: CA2684105681

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620572-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620572A>G , CM000669.2:g.100620572A>G	GRCh38
NC_000007.13:g.100218195A>G , CM000669.1:g.100218195A>G	GRCh37
NC_000007.12:g.100056131A>G	NCBI36
NG_007989.1:g.25979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*285T>C MANE Select	ENSP00000223051.3:n.*285T>C
ENST00000223051.7:c.*285T>C	ENSP00000223051.3:n.*285T>C
ENST00000431692.5:c.*1366T>C	ENSP00000413905.1:n.*1366T>C
ENST00000462090.5:n.1727T>C
ENST00000462107.1:c.*285T>C	ENSP00000420525.1:n.*285T>C
ENST00000465294.5:n.2611T>C
ENST00000476304.5:n.2312T>C
ENST00000490084.5:c.2044T>C
NM_001206855.1:c.*285T>C	NP_001193784.1:n.*285T>C
NM_003227.3:c.*285T>C	NP_003218.2:n.*285T>C
XM_005250553.3:c.*285T>C	XP_005250610.1:n.*285T>C
NM_001206855.2:c.*285T>C	NP_001193784.1:n.*285T>C
XM_005250553.4:c.*285T>C	XP_005250610.1:n.*285T>C
XM_017012573.1:c.*285T>C	XP_016868062.1:n.*285T>C
NM_003227.4:c.*285T>C MANE Select	NP_003218.2:n.*285T>C
NM_001206855.3:c.*285T>C	NP_001193784.1:n.*285T>C