Canonical Allele Identifier: CA2684106822

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627211-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627211C>A , CM000669.2:g.100627211C>A	GRCh38
NC_000007.13:g.100224834C>A , CM000669.1:g.100224834C>A	GRCh37
NC_000007.12:g.100062770C>A	NCBI36
NG_007989.1:g.19340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1995+53G>T MANE Select	ENSP00000223051.3:n.1995+53G>T
ENST00000223051.7:c.1995+53G>T	ENSP00000223051.3:n.1995+53G>T
ENST00000431692.5:c.*670+53G>T	ENSP00000413905.1:n.*670+53G>T
ENST00000461176.1:n.341+53G>T
ENST00000462090.5:n.1031+53G>T
ENST00000462107.1:c.1995+53G>T	ENSP00000420525.1:n.1995+53G>T
ENST00000465294.5:n.1915+53G>T
ENST00000476304.5:n.1616+53G>T
ENST00000490084.5:c.1348+53G>T
NM_001206855.1:c.1482+53G>T	NP_001193784.1:n.1482+53G>T
NM_003227.3:c.1995+53G>T	NP_003218.2:n.1995+53G>T
XM_005250553.3:c.1995+53G>T	XP_005250610.1:n.1995+53G>T
XM_005250554.3:c.1995+53G>T	XP_005250611.1:n.1995+53G>T
XR_927814.1:n.434-3945C>A
NM_001206855.2:c.1482+53G>T	NP_001193784.1:n.1482+53G>T
XM_005250553.4:c.1995+53G>T	XP_005250610.1:n.1995+53G>T
XM_017012573.1:c.1995+53G>T	XP_016868062.1:n.1995+53G>T
NM_003227.4:c.1995+53G>T MANE Select	NP_003218.2:n.1995+53G>T
NM_001206855.3:c.1482+53G>T	NP_001193784.1:n.1482+53G>T