Canonical Allele Identifier: CA456749864

Gene: TFR2

Linked Data

• dbSNP Id: rs1803493420
• gnomAD v3: 7-100633034-C-A
• gnomAD v4: 7-100633034-C-A
• MyVariant Identifiers: chr7:g.100230657C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633034C>A , CM000669.2:g.100633034C>A	GRCh38
NC_000007.13:g.100230657C>A , CM000669.1:g.100230657C>A	GRCh37
NC_000007.12:g.100068593C>A	NCBI36
NG_007989.1:g.13517G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.816G>T MANE Select	ENSP00000223051.3:p.Leu272=
ENST00000223051.7:c.816G>T	ENSP00000223051.3:p.Leu272=
ENST00000431692.5:c.816G>T	ENSP00000413905.1:p.Leu272=
ENST00000462090.5:n.57G>T
ENST00000462107.1:c.816G>T	ENSP00000420525.1:p.Leu272=
ENST00000465294.5:n.821G>T
ENST00000473374.5:n.266G>T
ENST00000473571.1:n.270G>T
ENST00000475011.1:n.345G>T
ENST00000476304.5:n.437G>T
ENST00000490084.5:c.71G>T
NM_001206855.1:c.303G>T	NP_001193784.1:p.Leu101=
NM_003227.3:c.816G>T	NP_003218.2:p.Leu272=
XM_005250553.3:c.816G>T	XP_005250610.1:p.Leu272=
XM_005250554.3:c.816G>T	XP_005250611.1:p.Leu272=
NM_001206855.2:c.303G>T	NP_001193784.1:p.Leu101=
XM_005250553.4:c.816G>T	XP_005250610.1:p.Leu272=
XM_017012573.1:c.816G>T	XP_016868062.1:p.Leu272=
NM_003227.4:c.816G>T MANE Select	NP_003218.2:p.Leu272=
NM_001206855.3:c.303G>T	NP_001193784.1:p.Leu101=