Canonical Allele Identifier: CA456749827

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633013-G-A
• MyVariant Identifiers: chr7:g.100230636G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633013G>A , CM000669.2:g.100633013G>A	GRCh38
NC_000007.13:g.100230636G>A , CM000669.1:g.100230636G>A	GRCh37
NC_000007.12:g.100068572G>A	NCBI36
NG_007989.1:g.13538C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.837C>T MANE Select	ENSP00000223051.3:p.Ser279=
ENST00000223051.7:c.837C>T	ENSP00000223051.3:p.Ser279=
ENST00000431692.5:c.837C>T	ENSP00000413905.1:p.Ser279=
ENST00000462090.5:n.78C>T
ENST00000462107.1:c.837C>T	ENSP00000420525.1:p.Ser279=
ENST00000465294.5:n.842C>T
ENST00000473374.5:n.287C>T
ENST00000473571.1:n.291C>T
ENST00000475011.1:n.366C>T
ENST00000476304.5:n.458C>T
ENST00000490084.5:c.92C>T
NM_001206855.1:c.324C>T	NP_001193784.1:p.Ser108=
NM_003227.3:c.837C>T	NP_003218.2:p.Ser279=
XM_005250553.3:c.837C>T	XP_005250610.1:p.Ser279=
XM_005250554.3:c.837C>T	XP_005250611.1:p.Ser279=
NM_001206855.2:c.324C>T	NP_001193784.1:p.Ser108=
XM_005250553.4:c.837C>T	XP_005250610.1:p.Ser279=
XM_017012573.1:c.837C>T	XP_016868062.1:p.Ser279=
NM_003227.4:c.837C>T MANE Select	NP_003218.2:p.Ser279=
NM_001206855.3:c.324C>T	NP_001193784.1:p.Ser108=