Canonical Allele Identifier: CA368526327

Gene: TFR2

Linked Data

• dbSNP Id: rs1356569396
• gnomAD v2: 7-100225378-C-G
• gnomAD v3: 7-100627755-C-G
• gnomAD v4: 7-100627755-C-G
• MyVariant Identifiers: chr7:g.100225378C>G (hg19) ; chr7:g.100627755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627755C>G , CM000669.2:g.100627755C>G	GRCh38
NC_000007.13:g.100225378C>G , CM000669.1:g.100225378C>G	GRCh37
NC_000007.12:g.100063314C>G	NCBI36
NG_007989.1:g.18796G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1671G>C MANE Select	ENSP00000223051.3:p.Trp557Cys
ENST00000223051.7:c.1671G>C	ENSP00000223051.3:p.Trp557Cys
ENST00000431692.5:c.*346G>C	ENSP00000413905.1:n.*346G>C
ENST00000462090.5:n.622G>C
ENST00000462107.1:c.1671G>C	ENSP00000420525.1:p.Trp557Cys
ENST00000465294.5:n.1506G>C
ENST00000473374.5:n.744G>C
ENST00000473963.1:n.700G>C
ENST00000476304.5:n.1292G>C
ENST00000490084.5:c.1024G>C
NM_001206855.1:c.1158G>C	NP_001193784.1:p.Trp386Cys
NM_003227.3:c.1671G>C	NP_003218.2:p.Trp557Cys
XM_005250553.3:c.1671G>C	XP_005250610.1:p.Trp557Cys
XM_005250554.3:c.1671G>C	XP_005250611.1:p.Trp557Cys
XR_927814.1:n.434-3401C>G
NM_001206855.2:c.1158G>C	NP_001193784.1:p.Trp386Cys
XM_005250553.4:c.1671G>C	XP_005250610.1:p.Trp557Cys
XM_017012573.1:c.1671G>C	XP_016868062.1:p.Trp557Cys
NM_003227.4:c.1671G>C MANE Select	NP_003218.2:p.Trp557Cys
NM_001206855.3:c.1158G>C	NP_001193784.1:p.Trp386Cys