Canonical Allele Identifier: CA4386758

Gene: TFR2

Linked Data

• dbSNP Id: rs753607265
• ExAC: 7:100230914 C / T
• gnomAD v2: 7-100230914-C-T
• gnomAD v3: 7-100633291-C-T
• gnomAD v4: 7-100633291-C-T
• MyVariant Identifiers: chr7:g.100230914C>T (hg19) ; chr7:g.100633291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633291C>T , CM000669.2:g.100633291C>T	GRCh38
NC_000007.13:g.100230914C>T , CM000669.1:g.100230914C>T	GRCh37
NC_000007.12:g.100068850C>T	NCBI36
NG_007989.1:g.13260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.664G>A MANE Select	ENSP00000223051.3:p.Glu222Lys
ENST00000223051.7:c.664G>A	ENSP00000223051.3:p.Glu222Lys
ENST00000431692.5:c.664G>A	ENSP00000413905.1:p.Glu222Lys
ENST00000462107.1:c.664G>A	ENSP00000420525.1:p.Glu222Lys
ENST00000465294.5:n.669G>A
ENST00000473374.5:n.114G>A
ENST00000473571.1:n.118G>A
ENST00000475011.1:n.193G>A
ENST00000476304.5:n.285G>A
NM_001206855.1:c.151G>A	NP_001193784.1:p.Glu51Lys
NM_003227.3:c.664G>A	NP_003218.2:p.Glu222Lys
XM_005250553.3:c.664G>A	XP_005250610.1:p.Glu222Lys
XM_005250554.3:c.664G>A	XP_005250611.1:p.Glu222Lys
NM_001206855.2:c.151G>A	NP_001193784.1:p.Glu51Lys
XM_005250553.4:c.664G>A	XP_005250610.1:p.Glu222Lys
XM_017012573.1:c.664G>A	XP_016868062.1:p.Glu222Lys
NM_003227.4:c.664G>A MANE Select	NP_003218.2:p.Glu222Lys
NM_001206855.3:c.151G>A	NP_001193784.1:p.Glu51Lys