Canonical Allele Identifier: CA4386705
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs370098845

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633056T>C , CM000669.2:g.100633056T>C GRCh38
NC_000007.13:g.100230679T>C , CM000669.1:g.100230679T>C GRCh37
NC_000007.12:g.100068615T>C NCBI36
NG_007989.1:g.13495A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.794A>G MANE Select ENSP00000223051.3:p.Asp265Gly
ENST00000223051.7:c.794A>G ENSP00000223051.3:p.Asp265Gly
ENST00000431692.5:c.794A>G ENSP00000413905.1:p.Asp265Gly
ENST00000462090.5:n.35A>G
ENST00000462107.1:c.794A>G ENSP00000420525.1:p.Asp265Gly
ENST00000465294.5:n.799A>G
ENST00000473374.5:n.244A>G
ENST00000473571.1:n.248A>G
ENST00000475011.1:n.323A>G
ENST00000476304.5:n.415A>G
ENST00000490084.5:c.49A>G
NM_001206855.1:c.281A>G NP_001193784.1:p.Asp94Gly
NM_003227.3:c.794A>G NP_003218.2:p.Asp265Gly
XM_005250553.3:c.794A>G XP_005250610.1:p.Asp265Gly
XM_005250554.3:c.794A>G XP_005250611.1:p.Asp265Gly
NM_001206855.2:c.281A>G NP_001193784.1:p.Asp94Gly
XM_005250553.4:c.794A>G XP_005250610.1:p.Asp265Gly
XM_017012573.1:c.794A>G XP_016868062.1:p.Asp265Gly
NM_003227.4:c.794A>G MANE Select NP_003218.2:p.Asp265Gly
NM_001206855.3:c.281A>G NP_001193784.1:p.Asp94Gly