Canonical Allele Identifier: CA163273065

Gene: TFR2

Linked Data

• dbSNP Id: rs41296654
• gnomAD v2: 7-100218181-C-T
• gnomAD v3: 7-100620558-C-T
• gnomAD v4: 7-100620558-C-T
• MyVariant Identifiers: chr7:g.100218181C>T (hg19) ; chr7:g.100620558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620558C>T , CM000669.2:g.100620558C>T	GRCh38
NC_000007.13:g.100218181C>T , CM000669.1:g.100218181C>T	GRCh37
NC_000007.12:g.100056117C>T	NCBI36
NG_007989.1:g.25993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*299G>A MANE Select	ENSP00000223051.3:n.*299G>A
ENST00000223051.7:c.*299G>A	ENSP00000223051.3:n.*299G>A
ENST00000431692.5:c.*1380G>A	ENSP00000413905.1:n.*1380G>A
ENST00000462090.5:n.1741G>A
ENST00000462107.1:c.*299G>A	ENSP00000420525.1:n.*299G>A
ENST00000465294.5:n.2625G>A
ENST00000476304.5:n.2326G>A
ENST00000490084.5:c.2058G>A
NM_001206855.1:c.*299G>A	NP_001193784.1:n.*299G>A
NM_003227.3:c.*299G>A	NP_003218.2:n.*299G>A
XM_005250553.3:c.*299G>A	XP_005250610.1:n.*299G>A
NM_001206855.2:c.*299G>A	NP_001193784.1:n.*299G>A
XM_005250553.4:c.*299G>A	XP_005250610.1:n.*299G>A
XM_017012573.1:c.*299G>A	XP_016868062.1:n.*299G>A
NM_003227.4:c.*299G>A MANE Select	NP_003218.2:n.*299G>A
NM_001206855.3:c.*299G>A	NP_001193784.1:n.*299G>A