Canonical Allele Identifier: CA368522905

Gene: TFR2

Linked Data

• dbSNP Id: rs1275491303
• gnomAD v2: 7-100224469-C-T
• gnomAD v4: 7-100626846-C-T
• MyVariant Identifiers: chr7:g.100224469C>T (hg19) ; chr7:g.100626846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626846C>T , CM000669.2:g.100626846C>T	GRCh38
NC_000007.13:g.100224469C>T , CM000669.1:g.100224469C>T	GRCh37
NC_000007.12:g.100062405C>T	NCBI36
NG_007989.1:g.19705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2053G>A MANE Select	ENSP00000223051.3:p.Ala685Thr
ENST00000223051.7:c.2053G>A	ENSP00000223051.3:p.Ala685Thr
ENST00000431692.5:c.*728G>A	ENSP00000413905.1:n.*728G>A
ENST00000461176.1:n.399G>A
ENST00000462090.5:n.1089G>A
ENST00000462107.1:c.2053G>A	ENSP00000420525.1:p.Ala685Thr
ENST00000465294.5:n.1973G>A
ENST00000476304.5:n.1674G>A
ENST00000490084.5:c.1406G>A
NM_001206855.1:c.1540G>A	NP_001193784.1:p.Ala514Thr
NM_003227.3:c.2053G>A	NP_003218.2:p.Ala685Thr
XM_005250553.3:c.2053G>A	XP_005250610.1:p.Ala685Thr
XM_005250554.3:c.2053G>A	XP_005250611.1:p.Ala685Thr
XR_927814.1:n.433+4292C>T
NM_001206855.2:c.1540G>A	NP_001193784.1:p.Ala514Thr
XM_005250553.4:c.2053G>A	XP_005250610.1:p.Ala685Thr
XM_017012573.1:c.2053G>A	XP_016868062.1:p.Ala685Thr
NM_003227.4:c.2053G>A MANE Select	NP_003218.2:p.Ala685Thr
NM_001206855.3:c.1540G>A	NP_001193784.1:p.Ala514Thr