Canonical Allele Identifier: CA368521538

Gene: TFR2

Linked Data

• gnomAD v4: 7-100621039-C-A
• MyVariant Identifiers: chr7:g.100218662C>A (hg19) ; chr7:g.100621039C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621039C>A , CM000669.2:g.100621039C>A	GRCh38
NC_000007.13:g.100218662C>A , CM000669.1:g.100218662C>A	GRCh37
NC_000007.12:g.100056598C>A	NCBI36
NG_007989.1:g.25512G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2224G>T MANE Select	ENSP00000223051.3:p.Gly742Cys
ENST00000223051.7:c.2224G>T	ENSP00000223051.3:p.Gly742Cys
ENST00000431692.5:c.*899G>T	ENSP00000413905.1:n.*899G>T
ENST00000462090.5:n.1260G>T
ENST00000462107.1:c.2224G>T	ENSP00000420525.1:p.Gly742Cys
ENST00000465294.5:n.2144G>T
ENST00000476304.5:n.1845G>T
ENST00000490084.5:c.1577G>T
NM_001206855.1:c.1711G>T	NP_001193784.1:p.Gly571Cys
NM_003227.3:c.2224G>T	NP_003218.2:p.Gly742Cys
XM_005250553.3:c.2224G>T	XP_005250610.1:p.Gly742Cys
NM_001206855.2:c.1711G>T	NP_001193784.1:p.Gly571Cys
XM_005250553.4:c.2224G>T	XP_005250610.1:p.Gly742Cys
XM_017012573.1:c.2224G>T	XP_016868062.1:p.Gly742Cys
NM_003227.4:c.2224G>T MANE Select	NP_003218.2:p.Gly742Cys
NM_001206855.3:c.1711G>T	NP_001193784.1:p.Gly571Cys