Canonical Allele Identifier: CA2684105729

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620604-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620604T>C , CM000669.2:g.100620604T>C	GRCh38
NC_000007.13:g.100218227T>C , CM000669.1:g.100218227T>C	GRCh37
NC_000007.12:g.100056163T>C	NCBI36
NG_007989.1:g.25947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*253A>G MANE Select	ENSP00000223051.3:n.*253A>G
ENST00000223051.7:c.*253A>G	ENSP00000223051.3:n.*253A>G
ENST00000431692.5:c.*1334A>G	ENSP00000413905.1:n.*1334A>G
ENST00000462090.5:n.1695A>G
ENST00000462107.1:c.*253A>G	ENSP00000420525.1:n.*253A>G
ENST00000465294.5:n.2579A>G
ENST00000476304.5:n.2280A>G
ENST00000490084.5:c.2012A>G
NM_001206855.1:c.*253A>G	NP_001193784.1:n.*253A>G
NM_003227.3:c.*253A>G	NP_003218.2:n.*253A>G
XM_005250553.3:c.*253A>G	XP_005250610.1:n.*253A>G
NM_001206855.2:c.*253A>G	NP_001193784.1:n.*253A>G
XM_005250553.4:c.*253A>G	XP_005250610.1:n.*253A>G
XM_017012573.1:c.*253A>G	XP_016868062.1:n.*253A>G
NM_003227.4:c.*253A>G MANE Select	NP_003218.2:n.*253A>G
NM_001206855.3:c.*253A>G	NP_001193784.1:n.*253A>G