Canonical Allele Identifier: CA456748933

Gene: TFR2

Linked Data

• gnomAD v4: 7-100621052-T-A
• MyVariant Identifiers: chr7:g.100218675T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621052T>A , CM000669.2:g.100621052T>A	GRCh38
NC_000007.13:g.100218675T>A , CM000669.1:g.100218675T>A	GRCh37
NC_000007.12:g.100056611T>A	NCBI36
NG_007989.1:g.25499A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2211A>T MANE Select	ENSP00000223051.3:p.Gly737=
ENST00000223051.7:c.2211A>T	ENSP00000223051.3:p.Gly737=
ENST00000431692.5:c.*886A>T	ENSP00000413905.1:n.*886A>T
ENST00000462090.5:n.1247A>T
ENST00000462107.1:c.2211A>T	ENSP00000420525.1:p.Gly737=
ENST00000465294.5:n.2131A>T
ENST00000476304.5:n.1832A>T
ENST00000490084.5:c.1564A>T
NM_001206855.1:c.1698A>T	NP_001193784.1:p.Gly566=
NM_003227.3:c.2211A>T	NP_003218.2:p.Gly737=
XM_005250553.3:c.2211A>T	XP_005250610.1:p.Gly737=
NM_001206855.2:c.1698A>T	NP_001193784.1:p.Gly566=
XM_005250553.4:c.2211A>T	XP_005250610.1:p.Gly737=
XM_017012573.1:c.2211A>T	XP_016868062.1:p.Gly737=
NM_003227.4:c.2211A>T MANE Select	NP_003218.2:p.Gly737=
NM_001206855.3:c.1698A>T	NP_001193784.1:p.Gly566=