Canonical Allele Identifier: CA456894351

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627468-C-G
• MyVariant Identifiers: chr7:g.100225091C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627468C>G , CM000669.2:g.100627468C>G	GRCh38
NC_000007.13:g.100225091C>G , CM000669.1:g.100225091C>G	GRCh37
NC_000007.12:g.100063027C>G	NCBI36
NG_007989.1:g.19083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1791G>C MANE Select	ENSP00000223051.3:p.Leu597=
ENST00000223051.7:c.1791G>C	ENSP00000223051.3:p.Leu597=
ENST00000431692.5:c.*466G>C	ENSP00000413905.1:n.*466G>C
ENST00000461176.1:n.137G>C
ENST00000462090.5:n.827G>C
ENST00000462107.1:c.1791G>C	ENSP00000420525.1:p.Leu597=
ENST00000465294.5:n.1711G>C
ENST00000473374.5:n.864G>C
ENST00000476304.5:n.1412G>C
ENST00000490084.5:c.1144G>C
NM_001206855.1:c.1278G>C	NP_001193784.1:p.Leu426=
NM_003227.3:c.1791G>C	NP_003218.2:p.Leu597=
XM_005250553.3:c.1791G>C	XP_005250610.1:p.Leu597=
XM_005250554.3:c.1791G>C	XP_005250611.1:p.Leu597=
XR_927814.1:n.434-3688C>G
NM_001206855.2:c.1278G>C	NP_001193784.1:p.Leu426=
XM_005250553.4:c.1791G>C	XP_005250610.1:p.Leu597=
XM_017012573.1:c.1791G>C	XP_016868062.1:p.Leu597=
NM_003227.4:c.1791G>C MANE Select	NP_003218.2:p.Leu597=
NM_001206855.3:c.1278G>C	NP_001193784.1:p.Leu426=