Canonical Allele Identifier: CA4386303

Gene: TFR2

Linked Data

• dbSNP Id: rs531726662
• ExAC: 7:100225280 G / A
• gnomAD v2: 7-100225280-G-A
• gnomAD v3: 7-100627657-G-A
• gnomAD v4: 7-100627657-G-A
• COSMIC: COSM5566415
• MyVariant Identifiers: chr7:g.100225280G>A (hg19) ; chr7:g.100627657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627657G>A , CM000669.2:g.100627657G>A	GRCh38
NC_000007.13:g.100225280G>A , CM000669.1:g.100225280G>A	GRCh37
NC_000007.12:g.100063216G>A	NCBI36
NG_007989.1:g.18894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1687C>T MANE Select	ENSP00000223051.3:p.Arg563Trp
ENST00000223051.7:c.1687C>T	ENSP00000223051.3:p.Arg563Trp
ENST00000431692.5:c.*362C>T	ENSP00000413905.1:n.*362C>T
ENST00000462090.5:n.638C>T
ENST00000462107.1:c.1687C>T	ENSP00000420525.1:p.Arg563Trp
ENST00000465294.5:n.1522C>T
ENST00000473374.5:n.760C>T
ENST00000473963.1:n.716C>T
ENST00000476304.5:n.1308C>T
ENST00000490084.5:c.1040C>T
NM_001206855.1:c.1174C>T	NP_001193784.1:p.Arg392Trp
NM_003227.3:c.1687C>T	NP_003218.2:p.Arg563Trp
XM_005250553.3:c.1687C>T	XP_005250610.1:p.Arg563Trp
XM_005250554.3:c.1687C>T	XP_005250611.1:p.Arg563Trp
XR_927814.1:n.434-3499G>A
NM_001206855.2:c.1174C>T	NP_001193784.1:p.Arg392Trp
XM_005250553.4:c.1687C>T	XP_005250610.1:p.Arg563Trp
XM_017012573.1:c.1687C>T	XP_016868062.1:p.Arg563Trp
NM_003227.4:c.1687C>T MANE Select	NP_003218.2:p.Arg563Trp
NM_001206855.3:c.1174C>T	NP_001193784.1:p.Arg392Trp