Canonical Allele Identifier: CA368534905

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633496-G-T
• MyVariant Identifiers: chr7:g.100231119G>T (hg19) ; chr7:g.100633496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633496G>T , CM000669.2:g.100633496G>T	GRCh38
NC_000007.13:g.100231119G>T , CM000669.1:g.100231119G>T	GRCh37
NC_000007.12:g.100069055G>T	NCBI36
NG_007989.1:g.13055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.534C>A MANE Select	ENSP00000223051.3:p.Asp178Glu
ENST00000223051.7:c.534C>A	ENSP00000223051.3:p.Asp178Glu
ENST00000431692.5:c.534C>A	ENSP00000413905.1:p.Asp178Glu
ENST00000462107.1:c.534C>A	ENSP00000420525.1:p.Asp178Glu
ENST00000465294.5:n.539C>A
ENST00000475011.1:n.63C>A
ENST00000476304.5:n.155C>A
NM_001206855.1:c.21C>A	NP_001193784.1:p.Asp7Glu
NM_003227.3:c.534C>A	NP_003218.2:p.Asp178Glu
XM_005250553.3:c.534C>A	XP_005250610.1:p.Asp178Glu
XM_005250554.3:c.534C>A	XP_005250611.1:p.Asp178Glu
NM_001206855.2:c.21C>A	NP_001193784.1:p.Asp7Glu
XM_005250553.4:c.534C>A	XP_005250610.1:p.Asp178Glu
XM_017012573.1:c.534C>A	XP_016868062.1:p.Asp178Glu
NM_003227.4:c.534C>A MANE Select	NP_003218.2:p.Asp178Glu
NM_001206855.3:c.21C>A	NP_001193784.1:p.Asp7Glu