Canonical Allele Identifier: CA368533592
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633014C>T , CM000669.2:g.100633014C>T GRCh38
NC_000007.13:g.100230637C>T , CM000669.1:g.100230637C>T GRCh37
NC_000007.12:g.100068573C>T NCBI36
NG_007989.1:g.13537G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.836G>A MANE Select ENSP00000223051.3:p.Ser279Asn
ENST00000223051.7:c.836G>A ENSP00000223051.3:p.Ser279Asn
ENST00000431692.5:c.836G>A ENSP00000413905.1:p.Ser279Asn
ENST00000462090.5:n.77G>A
ENST00000462107.1:c.836G>A ENSP00000420525.1:p.Ser279Asn
ENST00000465294.5:n.841G>A
ENST00000473374.5:n.286G>A
ENST00000473571.1:n.290G>A
ENST00000475011.1:n.365G>A
ENST00000476304.5:n.457G>A
ENST00000490084.5:c.91G>A
NM_001206855.1:c.323G>A NP_001193784.1:p.Ser108Asn
NM_003227.3:c.836G>A NP_003218.2:p.Ser279Asn
XM_005250553.3:c.836G>A XP_005250610.1:p.Ser279Asn
XM_005250554.3:c.836G>A XP_005250611.1:p.Ser279Asn
NM_001206855.2:c.323G>A NP_001193784.1:p.Ser108Asn
XM_005250553.4:c.836G>A XP_005250610.1:p.Ser279Asn
XM_017012573.1:c.836G>A XP_016868062.1:p.Ser279Asn
NM_003227.4:c.836G>A MANE Select NP_003218.2:p.Ser279Asn
NM_001206855.3:c.323G>A NP_001193784.1:p.Ser108Asn