Canonical Allele Identifier: CA2684105759

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620626-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620626T>C , CM000669.2:g.100620626T>C	GRCh38
NC_000007.13:g.100218249T>C , CM000669.1:g.100218249T>C	GRCh37
NC_000007.12:g.100056185T>C	NCBI36
NG_007989.1:g.25925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*231A>G MANE Select	ENSP00000223051.3:n.*231A>G
ENST00000223051.7:c.*231A>G	ENSP00000223051.3:n.*231A>G
ENST00000431692.5:c.*1312A>G	ENSP00000413905.1:n.*1312A>G
ENST00000462090.5:n.1673A>G
ENST00000462107.1:c.*231A>G	ENSP00000420525.1:n.*231A>G
ENST00000465294.5:n.2557A>G
ENST00000476304.5:n.2258A>G
ENST00000490084.5:c.1990A>G
NM_001206855.1:c.*231A>G	NP_001193784.1:n.*231A>G
NM_003227.3:c.*231A>G	NP_003218.2:n.*231A>G
XM_005250553.3:c.*231A>G	XP_005250610.1:n.*231A>G
NM_001206855.2:c.*231A>G	NP_001193784.1:n.*231A>G
XM_005250553.4:c.*231A>G	XP_005250610.1:n.*231A>G
XM_017012573.1:c.*231A>G	XP_016868062.1:n.*231A>G
NM_003227.4:c.*231A>G MANE Select	NP_003218.2:n.*231A>G
NM_001206855.3:c.*231A>G	NP_001193784.1:n.*231A>G