Canonical Allele Identifier: CA830497688

Gene: TFR2

Linked Data

• dbSNP Id: rs1401518268
• gnomAD v4: 7-100620605-G-A
• MyVariant Identifiers: chr7:g.100218228G>A (hg19) ; chr7:g.100620605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620605G>A , CM000669.2:g.100620605G>A	GRCh38
NC_000007.13:g.100218228G>A , CM000669.1:g.100218228G>A	GRCh37
NC_000007.12:g.100056164G>A	NCBI36
NG_007989.1:g.25946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*252C>T MANE Select	ENSP00000223051.3:n.*252C>T
ENST00000223051.7:c.*252C>T	ENSP00000223051.3:n.*252C>T
ENST00000431692.5:c.*1333C>T	ENSP00000413905.1:n.*1333C>T
ENST00000462090.5:n.1694C>T
ENST00000462107.1:c.*252C>T	ENSP00000420525.1:n.*252C>T
ENST00000465294.5:n.2578C>T
ENST00000476304.5:n.2279C>T
ENST00000490084.5:c.2011C>T
NM_001206855.1:c.*252C>T	NP_001193784.1:n.*252C>T
NM_003227.3:c.*252C>T	NP_003218.2:n.*252C>T
XM_005250553.3:c.*252C>T	XP_005250610.1:n.*252C>T
NM_001206855.2:c.*252C>T	NP_001193784.1:n.*252C>T
XM_005250553.4:c.*252C>T	XP_005250610.1:n.*252C>T
XM_017012573.1:c.*252C>T	XP_016868062.1:n.*252C>T
NM_003227.4:c.*252C>T MANE Select	NP_003218.2:n.*252C>T
NM_001206855.3:c.*252C>T	NP_001193784.1:n.*252C>T