Canonical Allele Identifier: CA4386766

Gene: TFR2

Linked Data

• ClinVar Variation Id: 358297
• ClinVar RCV Id: RCV000357181
• dbSNP Id: rs756655285
• ExAC: 7:100230961 G / T
• gnomAD v2: 7-100230961-G-T
• gnomAD v3: 7-100633338-G-T
• gnomAD v4: 7-100633338-G-T
• MyVariant Identifiers: chr7:g.100230961G>T (hg19) ; chr7:g.100633338G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633338G>T , CM000669.2:g.100633338G>T	GRCh38
NC_000007.13:g.100230961G>T , CM000669.1:g.100230961G>T	GRCh37
NC_000007.12:g.100068897G>T	NCBI36
NG_007989.1:g.13213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.617C>A MANE Select	ENSP00000223051.3:p.Ala206Asp
ENST00000223051.7:c.617C>A	ENSP00000223051.3:p.Ala206Asp
ENST00000431692.5:c.617C>A	ENSP00000413905.1:p.Ala206Asp
ENST00000462107.1:c.617C>A	ENSP00000420525.1:p.Ala206Asp
ENST00000465294.5:n.622C>A
ENST00000473374.5:n.67C>A
ENST00000473571.1:n.71C>A
ENST00000475011.1:n.146C>A
ENST00000476304.5:n.238C>A
NM_001206855.1:c.104C>A	NP_001193784.1:p.Ala35Asp
NM_003227.3:c.617C>A	NP_003218.2:p.Ala206Asp
XM_005250553.3:c.617C>A	XP_005250610.1:p.Ala206Asp
XM_005250554.3:c.617C>A	XP_005250611.1:p.Ala206Asp
NM_001206855.2:c.104C>A	NP_001193784.1:p.Ala35Asp
XM_005250553.4:c.617C>A	XP_005250610.1:p.Ala206Asp
XM_017012573.1:c.617C>A	XP_016868062.1:p.Ala206Asp
NM_003227.4:c.617C>A MANE Select	NP_003218.2:p.Ala206Asp
NM_001206855.3:c.104C>A	NP_001193784.1:p.Ala35Asp