Canonical Allele Identifier: CA368533999

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100230706A>T (hg19) ; chr7:g.100633083A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633083A>T , CM000669.2:g.100633083A>T	GRCh38
NC_000007.13:g.100230706A>T , CM000669.1:g.100230706A>T	GRCh37
NC_000007.12:g.100068642A>T	NCBI36
NG_007989.1:g.13468T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.767T>A MANE Select	ENSP00000223051.3:p.Leu256Gln
ENST00000223051.7:c.767T>A	ENSP00000223051.3:p.Leu256Gln
ENST00000431692.5:c.767T>A	ENSP00000413905.1:p.Leu256Gln
ENST00000462090.5:n.8T>A
ENST00000462107.1:c.767T>A	ENSP00000420525.1:p.Leu256Gln
ENST00000465294.5:n.772T>A
ENST00000473374.5:n.217T>A
ENST00000473571.1:n.221T>A
ENST00000475011.1:n.296T>A
ENST00000476304.5:n.388T>A
ENST00000490084.5:c.22T>A
NM_001206855.1:c.254T>A	NP_001193784.1:p.Leu85Gln
NM_003227.3:c.767T>A	NP_003218.2:p.Leu256Gln
XM_005250553.3:c.767T>A	XP_005250610.1:p.Leu256Gln
XM_005250554.3:c.767T>A	XP_005250611.1:p.Leu256Gln
NM_001206855.2:c.254T>A	NP_001193784.1:p.Leu85Gln
XM_005250553.4:c.767T>A	XP_005250610.1:p.Leu256Gln
XM_017012573.1:c.767T>A	XP_016868062.1:p.Leu256Gln
NM_003227.4:c.767T>A MANE Select	NP_003218.2:p.Leu256Gln
NM_001206855.3:c.254T>A	NP_001193784.1:p.Leu85Gln