Canonical Allele Identifier: CA830505890

Gene: TFR2

Linked Data

• dbSNP Id: rs1395111240
• gnomAD v3: 7-100632753-T-C
• gnomAD v4: 7-100632753-T-C
• MyVariant Identifiers: chr7:g.100230376T>C (hg19) ; chr7:g.100632753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632753T>C , CM000669.2:g.100632753T>C	GRCh38
NC_000007.13:g.100230376T>C , CM000669.1:g.100230376T>C	GRCh37
NC_000007.12:g.100068312T>C	NCBI36
NG_007989.1:g.13798A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.849+248A>G MANE Select	ENSP00000223051.3:n.849+248A>G
ENST00000223051.7:c.849+248A>G	ENSP00000223051.3:n.849+248A>G
ENST00000431692.5:c.849+248A>G	ENSP00000413905.1:n.849+248A>G
ENST00000462090.5:n.90+248A>G
ENST00000462107.1:c.849+248A>G	ENSP00000420525.1:n.849+248A>G
ENST00000465294.5:n.854+248A>G
ENST00000473374.5:n.299+248A>G
ENST00000473571.1:n.303+248A>G
ENST00000476304.5:n.470+248A>G
ENST00000490084.5:c.104+248A>G
NM_001206855.1:c.336+248A>G	NP_001193784.1:n.336+248A>G
NM_003227.3:c.849+248A>G	NP_003218.2:n.849+248A>G
XM_005250553.3:c.849+248A>G	XP_005250610.1:n.849+248A>G
XM_005250554.3:c.849+248A>G	XP_005250611.1:n.849+248A>G
XR_927814.1:n.504-170T>C
NM_001206855.2:c.336+248A>G	NP_001193784.1:n.336+248A>G
XM_005250553.4:c.849+248A>G	XP_005250610.1:n.849+248A>G
XM_017012573.1:c.849+248A>G	XP_016868062.1:n.849+248A>G
NM_003227.4:c.849+248A>G MANE Select	NP_003218.2:n.849+248A>G
NM_001206855.3:c.336+248A>G	NP_001193784.1:n.336+248A>G