Canonical Allele Identifier: CA4386199

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2906127
• ClinVar RCV Id: RCV003751306
• dbSNP Id: rs571430574
• ExAC: 7:100218761 G / C
• gnomAD v2: 7-100218761-G-C
• gnomAD v3: 7-100621138-G-C
• gnomAD v4: 7-100621138-G-C
• MyVariant Identifiers: chr7:g.100218761G>C (hg19) ; chr7:g.100621138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621138G>C , CM000669.2:g.100621138G>C	GRCh38
NC_000007.13:g.100218761G>C , CM000669.1:g.100218761G>C	GRCh37
NC_000007.12:g.100056697G>C	NCBI36
NG_007989.1:g.25413C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2137-12C>G MANE Select	ENSP00000223051.3:n.2137-12C>G
ENST00000223051.7:c.2137-12C>G	ENSP00000223051.3:n.2137-12C>G
ENST00000431692.5:c.*812-12C>G	ENSP00000413905.1:n.*812-12C>G
ENST00000462090.5:n.1173-12C>G
ENST00000462107.1:c.2137-12C>G	ENSP00000420525.1:n.2137-12C>G
ENST00000465294.5:n.2057-12C>G
ENST00000476304.5:n.1758-12C>G
ENST00000490084.5:c.1490-12C>G
NM_001206855.1:c.1624-12C>G	NP_001193784.1:n.1624-12C>G
NM_003227.3:c.2137-12C>G	NP_003218.2:n.2137-12C>G
XM_005250553.3:c.2137-12C>G	XP_005250610.1:n.2137-12C>G
NM_001206855.2:c.1624-12C>G	NP_001193784.1:n.1624-12C>G
XM_005250553.4:c.2137-12C>G	XP_005250610.1:n.2137-12C>G
XM_017012573.1:c.2137-12C>G	XP_016868062.1:n.2137-12C>G
NM_003227.4:c.2137-12C>G MANE Select	NP_003218.2:n.2137-12C>G
NM_001206855.3:c.1624-12C>G	NP_001193784.1:n.1624-12C>G