Canonical Allele Identifier: CA15497118
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs10247962

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100622306G>A , CM000669.2:g.100622306G>A GRCh38
NC_000007.13:g.100219929G>A , CM000669.1:g.100219929G>A GRCh37
NC_000007.12:g.100057865G>A NCBI36
NG_007989.1:g.24245C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2137-1180C>T MANE Select ENSP00000223051.3:p.=
ENST00000223051.7:c.2137-1180C>T ENSP00000223051.3:p.=
ENST00000431692.5:c.*812-1180C>T ENSP00000413905.1:p.=
ENST00000462090.5:n.1173-1180C>T
ENST00000462107.1:c.2137-1180C>T ENSP00000420525.1:p.=
ENST00000465294.5:n.2057-1180C>T
ENST00000476304.5:n.1758-1180C>T
ENST00000490084.5:n.1490-1180C>T
NM_001206855.1:c.1624-1180C>T NP_001193784.1:p.=
NM_003227.3:c.2137-1180C>T NP_003218.2:p.=
XM_005250553.3:c.2137-1180C>T XP_005250610.1:p.=
XR_927814.1:n.185G>A
NM_001206855.2:c.1624-1180C>T NP_001193784.1:p.=
XM_005250553.4:c.2137-1180C>T XP_005250610.1:p.=
XM_017012573.1:c.2137-1180C>T XP_016868062.1:p.=
NM_003227.4:c.2137-1180C>T MANE Select NP_003218.2:p.=
NM_001206855.3:c.1624-1180C>T NP_001193784.1:p.=