Canonical Allele Identifier: CA456749276

Gene: TFR2

Linked Data

• dbSNP Id: rs1225564270
• gnomAD v2: 7-100224458-C-T
• MyVariant Identifiers: chr7:g.100224458C>T (hg19) ; chr7:g.100626835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626835C>T , CM000669.2:g.100626835C>T	GRCh38
NC_000007.13:g.100224458C>T , CM000669.1:g.100224458C>T	GRCh37
NC_000007.12:g.100062394C>T	NCBI36
NG_007989.1:g.19716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2064G>A MANE Select	ENSP00000223051.3:p.Leu688=
ENST00000223051.7:c.2064G>A	ENSP00000223051.3:p.Leu688=
ENST00000431692.5:c.*739G>A	ENSP00000413905.1:n.*739G>A
ENST00000461176.1:n.410G>A
ENST00000462090.5:n.1100G>A
ENST00000462107.1:c.2064G>A	ENSP00000420525.1:p.Leu688=
ENST00000465294.5:n.1984G>A
ENST00000476304.5:n.1685G>A
ENST00000490084.5:c.1417G>A
NM_001206855.1:c.1551G>A	NP_001193784.1:p.Leu517=
NM_003227.3:c.2064G>A	NP_003218.2:p.Leu688=
XM_005250553.3:c.2064G>A	XP_005250610.1:p.Leu688=
XM_005250554.3:c.2064G>A	XP_005250611.1:p.Leu688=
XR_927814.1:n.433+4281C>T
NM_001206855.2:c.1551G>A	NP_001193784.1:p.Leu517=
XM_005250553.4:c.2064G>A	XP_005250610.1:p.Leu688=
XM_017012573.1:c.2064G>A	XP_016868062.1:p.Leu688=
NM_003227.4:c.2064G>A MANE Select	NP_003218.2:p.Leu688=
NM_001206855.3:c.1551G>A	NP_001193784.1:p.Leu517=