Canonical Allele Identifier: CA2715561081

Gene: TFR2

Linked Data

• dbSNP Id: rs2131319928

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632942T>C , CM000669.2:g.100632942T>C	GRCh38
NC_000007.13:g.100230565T>C , CM000669.1:g.100230565T>C	GRCh37
NC_000007.12:g.100068501T>C	NCBI36
NG_007989.1:g.13609A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.849+59A>G MANE Select	ENSP00000223051.3:n.849+59A>G
ENST00000223051.7:c.849+59A>G	ENSP00000223051.3:n.849+59A>G
ENST00000431692.5:c.849+59A>G	ENSP00000413905.1:n.849+59A>G
ENST00000462090.5:n.90+59A>G
ENST00000462107.1:c.849+59A>G	ENSP00000420525.1:n.849+59A>G
ENST00000465294.5:n.854+59A>G
ENST00000473374.5:n.299+59A>G
ENST00000473571.1:n.303+59A>G
ENST00000475011.1:n.437A>G
ENST00000476304.5:n.470+59A>G
ENST00000490084.5:c.104+59A>G
NM_001206855.1:c.336+59A>G	NP_001193784.1:n.336+59A>G
NM_003227.3:c.849+59A>G	NP_003218.2:n.849+59A>G
XM_005250553.3:c.849+59A>G	XP_005250610.1:n.849+59A>G
XM_005250554.3:c.849+59A>G	XP_005250611.1:n.849+59A>G
XR_927814.1:n.523T>C
NM_001206855.2:c.336+59A>G	NP_001193784.1:n.336+59A>G
XM_005250553.4:c.849+59A>G	XP_005250610.1:n.849+59A>G
XM_017012573.1:c.849+59A>G	XP_016868062.1:n.849+59A>G
NM_003227.4:c.849+59A>G MANE Select	NP_003218.2:n.849+59A>G
NM_001206855.3:c.336+59A>G	NP_001193784.1:n.336+59A>G