Canonical Allele Identifier: CA4386698
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs758467989

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633008G>A , CM000669.2:g.100633008G>A GRCh38
NC_000007.13:g.100230631G>A , CM000669.1:g.100230631G>A GRCh37
NC_000007.12:g.100068567G>A NCBI36
NG_007989.1:g.13543C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.842C>T MANE Select ENSP00000223051.3:p.Ala281Val
ENST00000223051.7:c.842C>T ENSP00000223051.3:p.Ala281Val
ENST00000431692.5:c.842C>T ENSP00000413905.1:p.Ala281Val
ENST00000462090.5:n.83C>T
ENST00000462107.1:c.842C>T ENSP00000420525.1:p.Ala281Val
ENST00000465294.5:n.847C>T
ENST00000473374.5:n.292C>T
ENST00000473571.1:n.296C>T
ENST00000475011.1:n.371C>T
ENST00000476304.5:n.463C>T
ENST00000490084.5:c.97C>T
NM_001206855.1:c.329C>T NP_001193784.1:p.Ala110Val
NM_003227.3:c.842C>T NP_003218.2:p.Ala281Val
XM_005250553.3:c.842C>T XP_005250610.1:p.Ala281Val
XM_005250554.3:c.842C>T XP_005250611.1:p.Ala281Val
NM_001206855.2:c.329C>T NP_001193784.1:p.Ala110Val
XM_005250553.4:c.842C>T XP_005250610.1:p.Ala281Val
XM_017012573.1:c.842C>T XP_016868062.1:p.Ala281Val
NM_003227.4:c.842C>T MANE Select NP_003218.2:p.Ala281Val
NM_001206855.3:c.329C>T NP_001193784.1:p.Ala110Val