Canonical Allele Identifier: CA368534142

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100230739A>T (hg19) ; chr7:g.100633116A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633116A>T , CM000669.2:g.100633116A>T	GRCh38
NC_000007.13:g.100230739A>T , CM000669.1:g.100230739A>T	GRCh37
NC_000007.12:g.100068675A>T	NCBI36
NG_007989.1:g.13435T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.734T>A MANE Select	ENSP00000223051.3:p.Leu245Gln
ENST00000223051.7:c.734T>A	ENSP00000223051.3:p.Leu245Gln
ENST00000431692.5:c.734T>A	ENSP00000413905.1:p.Leu245Gln
ENST00000462107.1:c.734T>A	ENSP00000420525.1:p.Leu245Gln
ENST00000465294.5:n.739T>A
ENST00000473374.5:n.184T>A
ENST00000473571.1:n.188T>A
ENST00000475011.1:n.263T>A
ENST00000476304.5:n.355T>A
NM_001206855.1:c.221T>A	NP_001193784.1:p.Leu74Gln
NM_003227.3:c.734T>A	NP_003218.2:p.Leu245Gln
XM_005250553.3:c.734T>A	XP_005250610.1:p.Leu245Gln
XM_005250554.3:c.734T>A	XP_005250611.1:p.Leu245Gln
NM_001206855.2:c.221T>A	NP_001193784.1:p.Leu74Gln
XM_005250553.4:c.734T>A	XP_005250610.1:p.Leu245Gln
XM_017012573.1:c.734T>A	XP_016868062.1:p.Leu245Gln
NM_003227.4:c.734T>A MANE Select	NP_003218.2:p.Leu245Gln
NM_001206855.3:c.221T>A	NP_001193784.1:p.Leu74Gln