Canonical Allele Identifier: CA368533731

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100230661A>T (hg19) ; chr7:g.100633038A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633038A>T , CM000669.2:g.100633038A>T	GRCh38
NC_000007.13:g.100230661A>T , CM000669.1:g.100230661A>T	GRCh37
NC_000007.12:g.100068597A>T	NCBI36
NG_007989.1:g.13513T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.812T>A MANE Select	ENSP00000223051.3:p.Leu271Gln
ENST00000223051.7:c.812T>A	ENSP00000223051.3:p.Leu271Gln
ENST00000431692.5:c.812T>A	ENSP00000413905.1:p.Leu271Gln
ENST00000462090.5:n.53T>A
ENST00000462107.1:c.812T>A	ENSP00000420525.1:p.Leu271Gln
ENST00000465294.5:n.817T>A
ENST00000473374.5:n.262T>A
ENST00000473571.1:n.266T>A
ENST00000475011.1:n.341T>A
ENST00000476304.5:n.433T>A
ENST00000490084.5:c.67T>A
NM_001206855.1:c.299T>A	NP_001193784.1:p.Leu100Gln
NM_003227.3:c.812T>A	NP_003218.2:p.Leu271Gln
XM_005250553.3:c.812T>A	XP_005250610.1:p.Leu271Gln
XM_005250554.3:c.812T>A	XP_005250611.1:p.Leu271Gln
NM_001206855.2:c.299T>A	NP_001193784.1:p.Leu100Gln
XM_005250553.4:c.812T>A	XP_005250610.1:p.Leu271Gln
XM_017012573.1:c.812T>A	XP_016868062.1:p.Leu271Gln
NM_003227.4:c.812T>A MANE Select	NP_003218.2:p.Leu271Gln
NM_001206855.3:c.299T>A	NP_001193784.1:p.Leu100Gln