Canonical Allele Identifier: CA456750273

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2721233
• ClinVar RCV Id: RCV003590847
• dbSNP Id: rs1803496924
• gnomAD v3: 7-100633121-T-C
• gnomAD v4: 7-100633121-T-C
• MyVariant Identifiers: chr7:g.100230744T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633121T>C , CM000669.2:g.100633121T>C	GRCh38
NC_000007.13:g.100230744T>C , CM000669.1:g.100230744T>C	GRCh37
NC_000007.12:g.100068680T>C	NCBI36
NG_007989.1:g.13430A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.729A>G MANE Select	ENSP00000223051.3:p.Gly243=
ENST00000223051.7:c.729A>G	ENSP00000223051.3:p.Gly243=
ENST00000431692.5:c.729A>G	ENSP00000413905.1:p.Gly243=
ENST00000462107.1:c.729A>G	ENSP00000420525.1:p.Gly243=
ENST00000465294.5:n.734A>G
ENST00000473374.5:n.179A>G
ENST00000473571.1:n.183A>G
ENST00000475011.1:n.258A>G
ENST00000476304.5:n.350A>G
NM_001206855.1:c.216A>G	NP_001193784.1:p.Gly72=
NM_003227.3:c.729A>G	NP_003218.2:p.Gly243=
XM_005250553.3:c.729A>G	XP_005250610.1:p.Gly243=
XM_005250554.3:c.729A>G	XP_005250611.1:p.Gly243=
NM_001206855.2:c.216A>G	NP_001193784.1:p.Gly72=
XM_005250553.4:c.729A>G	XP_005250610.1:p.Gly243=
XM_017012573.1:c.729A>G	XP_016868062.1:p.Gly243=
NM_003227.4:c.729A>G MANE Select	NP_003218.2:p.Gly243=
NM_001206855.3:c.216A>G	NP_001193784.1:p.Gly72=