Canonical Allele Identifier: CA368533475

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1978027
• ClinVar RCV Id: RCV002750888
• dbSNP Id: rs1389208146
• MyVariant Identifiers: chr7:g.100230623C>A (hg19) ; chr7:g.100633000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633000C>A , CM000669.2:g.100633000C>A	GRCh38
NC_000007.13:g.100230623C>A , CM000669.1:g.100230623C>A	GRCh37
NC_000007.12:g.100068559C>A	NCBI36
NG_007989.1:g.13551G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.849+1G>T MANE Select	ENSP00000223051.3:n.849+1G>T
ENST00000223051.7:c.849+1G>T	ENSP00000223051.3:n.849+1G>T
ENST00000431692.5:c.849+1G>T	ENSP00000413905.1:n.849+1G>T
ENST00000462090.5:n.90+1G>T
ENST00000462107.1:c.849+1G>T	ENSP00000420525.1:n.849+1G>T
ENST00000465294.5:n.854+1G>T
ENST00000473374.5:n.299+1G>T
ENST00000473571.1:n.303+1G>T
ENST00000475011.1:n.379G>T
ENST00000476304.5:n.470+1G>T
ENST00000490084.5:c.104+1G>T
NM_001206855.1:c.336+1G>T	NP_001193784.1:n.336+1G>T
NM_003227.3:c.849+1G>T	NP_003218.2:n.849+1G>T
XM_005250553.3:c.849+1G>T	XP_005250610.1:n.849+1G>T
XM_005250554.3:c.849+1G>T	XP_005250611.1:n.849+1G>T
XR_927814.1:n.581C>A
NM_001206855.2:c.336+1G>T	NP_001193784.1:n.336+1G>T
XM_005250553.4:c.849+1G>T	XP_005250610.1:n.849+1G>T
XM_017012573.1:c.849+1G>T	XP_016868062.1:n.849+1G>T
NM_003227.4:c.849+1G>T MANE Select	NP_003218.2:n.849+1G>T
NM_001206855.3:c.336+1G>T	NP_001193784.1:n.336+1G>T