Canonical Allele Identifier: CA368533472
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633000C>G , CM000669.2:g.100633000C>G GRCh38
NC_000007.13:g.100230623C>G , CM000669.1:g.100230623C>G GRCh37
NC_000007.12:g.100068559C>G NCBI36
NG_007989.1:g.13551G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.849+1G>C MANE Select ENSP00000223051.3:n.849+1G>C
ENST00000223051.7:c.849+1G>C ENSP00000223051.3:n.849+1G>C
ENST00000431692.5:c.849+1G>C ENSP00000413905.1:n.849+1G>C
ENST00000462090.5:n.90+1G>C
ENST00000462107.1:c.849+1G>C ENSP00000420525.1:n.849+1G>C
ENST00000465294.5:n.854+1G>C
ENST00000473374.5:n.299+1G>C
ENST00000473571.1:n.303+1G>C
ENST00000475011.1:n.379G>C
ENST00000476304.5:n.470+1G>C
ENST00000490084.5:c.104+1G>C
NM_001206855.1:c.336+1G>C NP_001193784.1:n.336+1G>C
NM_003227.3:c.849+1G>C NP_003218.2:n.849+1G>C
XM_005250553.3:c.849+1G>C XP_005250610.1:n.849+1G>C
XM_005250554.3:c.849+1G>C XP_005250611.1:n.849+1G>C
XR_927814.1:n.581C>G
NM_001206855.2:c.336+1G>C NP_001193784.1:n.336+1G>C
XM_005250553.4:c.849+1G>C XP_005250610.1:n.849+1G>C
XM_017012573.1:c.849+1G>C XP_016868062.1:n.849+1G>C
NM_003227.4:c.849+1G>C MANE Select NP_003218.2:n.849+1G>C
NM_001206855.3:c.336+1G>C NP_001193784.1:n.336+1G>C