Canonical Allele Identifier: CA4386181

Gene: TFR2

Linked Data

• dbSNP Id: rs750378395
• ExAC: 7:100218659 C / T
• gnomAD v2: 7-100218659-C-T
• gnomAD v3: 7-100621036-C-T
• gnomAD v4: 7-100621036-C-T
• MyVariant Identifiers: chr7:g.100218659C>T (hg19) ; chr7:g.100621036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621036C>T , CM000669.2:g.100621036C>T	GRCh38
NC_000007.13:g.100218659C>T , CM000669.1:g.100218659C>T	GRCh37
NC_000007.12:g.100056595C>T	NCBI36
NG_007989.1:g.25515G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2227G>A MANE Select	ENSP00000223051.3:p.Ala743Thr
ENST00000223051.7:c.2227G>A	ENSP00000223051.3:p.Ala743Thr
ENST00000431692.5:c.*902G>A	ENSP00000413905.1:n.*902G>A
ENST00000462090.5:n.1263G>A
ENST00000462107.1:c.2227G>A	ENSP00000420525.1:p.Ala743Thr
ENST00000465294.5:n.2147G>A
ENST00000476304.5:n.1848G>A
ENST00000490084.5:c.1580G>A
NM_001206855.1:c.1714G>A	NP_001193784.1:p.Ala572Thr
NM_003227.3:c.2227G>A	NP_003218.2:p.Ala743Thr
XM_005250553.3:c.2227G>A	XP_005250610.1:p.Ala743Thr
NM_001206855.2:c.1714G>A	NP_001193784.1:p.Ala572Thr
XM_005250553.4:c.2227G>A	XP_005250610.1:p.Ala743Thr
XM_017012573.1:c.2227G>A	XP_016868062.1:p.Ala743Thr
NM_003227.4:c.2227G>A MANE Select	NP_003218.2:p.Ala743Thr
NM_001206855.3:c.1714G>A	NP_001193784.1:p.Ala572Thr