Canonical Allele Identifier: CA4386718

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1121656
• ClinVar RCV Id: RCV001451990
• dbSNP Id: rs765746785
• ExAC: 7:100230714 G / C
• gnomAD v2: 7-100230714-G-C
• gnomAD v3: 7-100633091-G-C
• gnomAD v4: 7-100633091-G-C
• MyVariant Identifiers: chr7:g.100230714G>C (hg19) ; chr7:g.100633091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633091G>C , CM000669.2:g.100633091G>C	GRCh38
NC_000007.13:g.100230714G>C , CM000669.1:g.100230714G>C	GRCh37
NC_000007.12:g.100068650G>C	NCBI36
NG_007989.1:g.13460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.759C>G MANE Select	ENSP00000223051.3:p.Pro253=
ENST00000223051.7:c.759C>G	ENSP00000223051.3:p.Pro253=
ENST00000431692.5:c.759C>G	ENSP00000413905.1:p.Pro253=
ENST00000462107.1:c.759C>G	ENSP00000420525.1:p.Pro253=
ENST00000465294.5:n.764C>G
ENST00000473374.5:n.209C>G
ENST00000473571.1:n.213C>G
ENST00000475011.1:n.288C>G
ENST00000476304.5:n.380C>G
ENST00000490084.5:c.14C>G
NM_001206855.1:c.246C>G	NP_001193784.1:p.Pro82=
NM_003227.3:c.759C>G	NP_003218.2:p.Pro253=
XM_005250553.3:c.759C>G	XP_005250610.1:p.Pro253=
XM_005250554.3:c.759C>G	XP_005250611.1:p.Pro253=
NM_001206855.2:c.246C>G	NP_001193784.1:p.Pro82=
XM_005250553.4:c.759C>G	XP_005250610.1:p.Pro253=
XM_017012573.1:c.759C>G	XP_016868062.1:p.Pro253=
NM_003227.4:c.759C>G MANE Select	NP_003218.2:p.Pro253=
NM_001206855.3:c.246C>G	NP_001193784.1:p.Pro82=