Canonical Allele Identifier: CA10627831

Gene: TFR2

Linked Data

• ClinVar Variation Id: 358281
• ClinVar RCV Id: RCV000396631
• dbSNP Id: rs759379957
• gnomAD v3: 7-100620649-G-A
• gnomAD v4: 7-100620649-G-A
• MyVariant Identifiers: chr7:g.100218272G>A (hg19) ; chr7:g.100620649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620649G>A , CM000669.2:g.100620649G>A	GRCh38
NC_000007.13:g.100218272G>A , CM000669.1:g.100218272G>A	GRCh37
NC_000007.12:g.100056208G>A	NCBI36
NG_007989.1:g.25902C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.*208C>T MANE Select	ENSP00000223051.3:n.*208C>T
ENST00000223051.7:c.*208C>T	ENSP00000223051.3:n.*208C>T
ENST00000431692.5:c.*1289C>T	ENSP00000413905.1:n.*1289C>T
ENST00000462090.5:n.1650C>T
ENST00000462107.1:c.*208C>T	ENSP00000420525.1:n.*208C>T
ENST00000465294.5:n.2534C>T
ENST00000476304.5:n.2235C>T
ENST00000490084.5:c.1967C>T
NM_001206855.1:c.*208C>T	NP_001193784.1:n.*208C>T
NM_003227.3:c.*208C>T	NP_003218.2:n.*208C>T
XM_005250553.3:c.*208C>T	XP_005250610.1:n.*208C>T
NM_001206855.2:c.*208C>T	NP_001193784.1:n.*208C>T
XM_005250553.4:c.*208C>T	XP_005250610.1:n.*208C>T
XM_017012573.1:c.*208C>T	XP_016868062.1:n.*208C>T
NM_003227.4:c.*208C>T MANE Select	NP_003218.2:n.*208C>T
NM_001206855.3:c.*208C>T	NP_001193784.1:n.*208C>T