Canonical Allele Identifier: CA456748683

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1997662
• ClinVar RCV Id: RCV002824116
• gnomAD v4: 7-100621031-C-G
• MyVariant Identifiers: chr7:g.100218654C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621031C>G , CM000669.2:g.100621031C>G	GRCh38
NC_000007.13:g.100218654C>G , CM000669.1:g.100218654C>G	GRCh37
NC_000007.12:g.100056590C>G	NCBI36
NG_007989.1:g.25520G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2232G>C MANE Select	ENSP00000223051.3:p.Leu744=
ENST00000223051.7:c.2232G>C	ENSP00000223051.3:p.Leu744=
ENST00000431692.5:c.*907G>C	ENSP00000413905.1:n.*907G>C
ENST00000462090.5:n.1268G>C
ENST00000462107.1:c.2232G>C	ENSP00000420525.1:p.Leu744=
ENST00000465294.5:n.2152G>C
ENST00000476304.5:n.1853G>C
ENST00000490084.5:c.1585G>C
NM_001206855.1:c.1719G>C	NP_001193784.1:p.Leu573=
NM_003227.3:c.2232G>C	NP_003218.2:p.Leu744=
XM_005250553.3:c.2232G>C	XP_005250610.1:p.Leu744=
NM_001206855.2:c.1719G>C	NP_001193784.1:p.Leu573=
XM_005250553.4:c.2232G>C	XP_005250610.1:p.Leu744=
XM_017012573.1:c.2232G>C	XP_016868062.1:p.Leu744=
NM_003227.4:c.2232G>C MANE Select	NP_003218.2:p.Leu744=
NM_001206855.3:c.1719G>C	NP_001193784.1:p.Leu573=