Canonical Allele Identifier: CA4386299

Gene: TFR2

Linked Data

• dbSNP Id: rs775586229
• ExAC: 7:100225266 C / T
• gnomAD v2: 7-100225266-C-T
• MyVariant Identifiers: chr7:g.100225266C>T (hg19) ; chr7:g.100627643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627643C>T , CM000669.2:g.100627643C>T	GRCh38
NC_000007.13:g.100225266C>T , CM000669.1:g.100225266C>T	GRCh37
NC_000007.12:g.100063202C>T	NCBI36
NG_007989.1:g.18908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1701G>A MANE Select	ENSP00000223051.3:p.Met567Ile
ENST00000223051.7:c.1701G>A	ENSP00000223051.3:p.Met567Ile
ENST00000431692.5:c.*376G>A	ENSP00000413905.1:n.*376G>A
ENST00000462090.5:n.652G>A
ENST00000462107.1:c.1701G>A	ENSP00000420525.1:p.Met567Ile
ENST00000465294.5:n.1536G>A
ENST00000473374.5:n.774G>A
ENST00000473963.1:n.730G>A
ENST00000476304.5:n.1322G>A
ENST00000490084.5:c.1054G>A
NM_001206855.1:c.1188G>A	NP_001193784.1:p.Met396Ile
NM_003227.3:c.1701G>A	NP_003218.2:p.Met567Ile
XM_005250553.3:c.1701G>A	XP_005250610.1:p.Met567Ile
XM_005250554.3:c.1701G>A	XP_005250611.1:p.Met567Ile
XR_927814.1:n.434-3513C>T
NM_001206855.2:c.1188G>A	NP_001193784.1:p.Met396Ile
XM_005250553.4:c.1701G>A	XP_005250610.1:p.Met567Ile
XM_017012573.1:c.1701G>A	XP_016868062.1:p.Met567Ile
NM_003227.4:c.1701G>A MANE Select	NP_003218.2:p.Met567Ile
NM_001206855.3:c.1188G>A	NP_001193784.1:p.Met396Ile