Canonical Allele Identifier: CA1105041545

Gene: TFR2

Linked Data

• dbSNP Id: rs1803498698
• gnomAD v3: 7-100633159-G-GGACGC
• gnomAD v4: 7-100633159-G-GGACGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633159_100633160insGACGC , CM000669.2:g.100633159_100633160insGACGC	GRCh38
NC_000007.13:g.100230782_100230783insGACGC , CM000669.1:g.100230782_100230783insGACGC	GRCh37
NC_000007.12:g.100068718_100068719insGACGC	NCBI36
NG_007989.1:g.13391_13392insGCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.727-37_727-36insGCGTC MANE Select	ENSP00000223051.3:n.727-37_727-36insGCGTC
ENST00000223051.7:c.727-37_727-36insGCGTC	ENSP00000223051.3:n.727-37_727-36insGCGTC
ENST00000431692.5:c.727-37_727-36insGCGTC	ENSP00000413905.1:n.727-37_727-36insGCGTC
ENST00000462107.1:c.727-37_727-36insGCGTC	ENSP00000420525.1:n.727-37_727-36insGCGTC
ENST00000465294.5:n.732-37_732-36insGCGTC
ENST00000473374.5:n.177-37_177-36insGCGTC
ENST00000473571.1:n.181-37_181-36insGCGTC
ENST00000475011.1:n.256-37_256-36insGCGTC
ENST00000476304.5:n.348-37_348-36insGCGTC
NM_001206855.1:c.214-37_214-36insGCGTC	NP_001193784.1:n.214-37_214-36insGCGTC
NM_003227.3:c.727-37_727-36insGCGTC	NP_003218.2:n.727-37_727-36insGCGTC
XM_005250553.3:c.727-37_727-36insGCGTC	XP_005250610.1:n.727-37_727-36insGCGTC
XM_005250554.3:c.727-37_727-36insGCGTC	XP_005250611.1:n.727-37_727-36insGCGTC
NM_001206855.2:c.214-37_214-36insGCGTC	NP_001193784.1:n.214-37_214-36insGCGTC
XM_005250553.4:c.727-37_727-36insGCGTC	XP_005250610.1:n.727-37_727-36insGCGTC
XM_017012573.1:c.727-37_727-36insGCGTC	XP_016868062.1:n.727-37_727-36insGCGTC
NM_003227.4:c.727-37_727-36insGCGTC MANE Select	NP_003218.2:n.727-37_727-36insGCGTC
NM_001206855.3:c.214-37_214-36insGCGTC	NP_001193784.1:n.214-37_214-36insGCGTC