Canonical Allele Identifier: CA341977
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21366
ClinVar RCV Id: RCV000020539
dbSNP Id: rs80338886

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100628228A>C , CM000669.2:g.100628228A>C GRCh38
NC_000007.13:g.100225851A>C , CM000669.1:g.100225851A>C GRCh37
NC_000007.12:g.100063787A>C NCBI36
NG_007989.1:g.18323T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.1469T>G MANE Select ENSP00000223051.3:p.Leu490Arg
ENST00000223051.7:c.1469T>G ENSP00000223051.3:p.Leu490Arg
ENST00000431692.5:c.*144T>G ENSP00000413905.1:n.*144T>G
ENST00000462090.5:n.333T>G
ENST00000462107.1:c.1469T>G ENSP00000420525.1:p.Leu490Arg
ENST00000465294.5:n.1217T>G
ENST00000473374.5:n.542T>G
ENST00000473963.1:n.498T>G
ENST00000476304.5:n.1090T>G
ENST00000490084.5:c.822T>G
NM_001206855.1:c.956T>G NP_001193784.1:p.Leu319Arg
NM_003227.3:c.1469T>G NP_003218.2:p.Leu490Arg
XM_005250553.3:c.1469T>G XP_005250610.1:p.Leu490Arg
XM_005250554.3:c.1469T>G XP_005250611.1:p.Leu490Arg
XR_927814.1:n.434-2928A>C
NM_001206855.2:c.956T>G NP_001193784.1:p.Leu319Arg
XM_005250553.4:c.1469T>G XP_005250610.1:p.Leu490Arg
XM_017012573.1:c.1469T>G XP_016868062.1:p.Leu490Arg
NM_003227.4:c.1469T>G MANE Select NP_003218.2:p.Leu490Arg
NM_001206855.3:c.956T>G NP_001193784.1:p.Leu319Arg