Canonical Allele Identifier: CA2684105722

Gene: TFR2

Linked Data

• dbSNP Id: rs1803073979
• gnomAD v4: 7-100620599-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620599G>T , CM000669.2:g.100620599G>T	GRCh38
NC_000007.13:g.100218222G>T , CM000669.1:g.100218222G>T	GRCh37
NC_000007.12:g.100056158G>T	NCBI36
NG_007989.1:g.25952C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*258C>A MANE Select	ENSP00000223051.3:n.*258C>A
ENST00000223051.7:c.*258C>A	ENSP00000223051.3:n.*258C>A
ENST00000431692.5:c.*1339C>A	ENSP00000413905.1:n.*1339C>A
ENST00000462090.5:n.1700C>A
ENST00000462107.1:c.*258C>A	ENSP00000420525.1:n.*258C>A
ENST00000465294.5:n.2584C>A
ENST00000476304.5:n.2285C>A
ENST00000490084.5:c.2017C>A
NM_001206855.1:c.*258C>A	NP_001193784.1:n.*258C>A
NM_003227.3:c.*258C>A	NP_003218.2:n.*258C>A
XM_005250553.3:c.*258C>A	XP_005250610.1:n.*258C>A
NM_001206855.2:c.*258C>A	NP_001193784.1:n.*258C>A
XM_005250553.4:c.*258C>A	XP_005250610.1:n.*258C>A
XM_017012573.1:c.*258C>A	XP_016868062.1:n.*258C>A
NM_003227.4:c.*258C>A MANE Select	NP_003218.2:n.*258C>A
NM_001206855.3:c.*258C>A	NP_001193784.1:n.*258C>A