Canonical Allele Identifier: CA368524178

Gene: TFR2

Linked Data

• dbSNP Id: rs1803288651
• gnomAD v3: 7-100627269-G-C
• gnomAD v4: 7-100627269-G-C
• MyVariant Identifiers: chr7:g.100224892G>C (hg19) ; chr7:g.100627269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627269G>C , CM000669.2:g.100627269G>C	GRCh38
NC_000007.13:g.100224892G>C , CM000669.1:g.100224892G>C	GRCh37
NC_000007.12:g.100062828G>C	NCBI36
NG_007989.1:g.19282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1990C>G MANE Select	ENSP00000223051.3:p.Leu664Val
ENST00000223051.7:c.1990C>G	ENSP00000223051.3:p.Leu664Val
ENST00000431692.5:c.*665C>G	ENSP00000413905.1:n.*665C>G
ENST00000461176.1:n.336C>G
ENST00000462090.5:n.1026C>G
ENST00000462107.1:c.1990C>G	ENSP00000420525.1:p.Leu664Val
ENST00000465294.5:n.1910C>G
ENST00000476304.5:n.1611C>G
ENST00000490084.5:c.1343C>G
NM_001206855.1:c.1477C>G	NP_001193784.1:p.Leu493Val
NM_003227.3:c.1990C>G	NP_003218.2:p.Leu664Val
XM_005250553.3:c.1990C>G	XP_005250610.1:p.Leu664Val
XM_005250554.3:c.1990C>G	XP_005250611.1:p.Leu664Val
XR_927814.1:n.434-3887G>C
NM_001206855.2:c.1477C>G	NP_001193784.1:p.Leu493Val
XM_005250553.4:c.1990C>G	XP_005250610.1:p.Leu664Val
XM_017012573.1:c.1990C>G	XP_016868062.1:p.Leu664Val
NM_003227.4:c.1990C>G MANE Select	NP_003218.2:p.Leu664Val
NM_001206855.3:c.1477C>G	NP_001193784.1:p.Leu493Val