Canonical Allele Identifier: CA456748470

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620935-T-C
• MyVariant Identifiers: chr7:g.100218558T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620935T>C , CM000669.2:g.100620935T>C	GRCh38
NC_000007.13:g.100218558T>C , CM000669.1:g.100218558T>C	GRCh37
NC_000007.12:g.100056494T>C	NCBI36
NG_007989.1:g.25616A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2328A>G MANE Select	ENSP00000223051.3:p.Leu776=
ENST00000223051.7:c.2328A>G	ENSP00000223051.3:p.Leu776=
ENST00000431692.5:c.*1003A>G	ENSP00000413905.1:n.*1003A>G
ENST00000462090.5:n.1364A>G
ENST00000462107.1:c.2328A>G	ENSP00000420525.1:p.Leu776=
ENST00000465294.5:n.2248A>G
ENST00000476304.5:n.1949A>G
ENST00000490084.5:c.1681A>G
NM_001206855.1:c.1815A>G	NP_001193784.1:p.Leu605=
NM_003227.3:c.2328A>G	NP_003218.2:p.Leu776=
XM_005250553.3:c.2328A>G	XP_005250610.1:p.Leu776=
NM_001206855.2:c.1815A>G	NP_001193784.1:p.Leu605=
XM_005250553.4:c.2328A>G	XP_005250610.1:p.Leu776=
XM_017012573.1:c.2328A>G	XP_016868062.1:p.Leu776=
NM_003227.4:c.2328A>G MANE Select	NP_003218.2:p.Leu776=
NM_001206855.3:c.1815A>G	NP_001193784.1:p.Leu605=