Canonical Allele Identifier: CA576449372

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1156484
• ClinVar RCV Id: RCV001499147
• dbSNP Id: rs1255761537
• gnomAD v2: 7-100218753-C-T
• gnomAD v3: 7-100621130-C-T
• gnomAD v4: 7-100621130-C-T
• MyVariant Identifiers: chr7:g.100218753C>T (hg19) ; chr7:g.100621130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621130C>T , CM000669.2:g.100621130C>T	GRCh38
NC_000007.13:g.100218753C>T , CM000669.1:g.100218753C>T	GRCh37
NC_000007.12:g.100056689C>T	NCBI36
NG_007989.1:g.25421G>A

Transcript Alleles

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