Canonical Allele Identifier: CA576714376

Gene: TFR2

Linked Data

• dbSNP Id: rs756856137
• gnomAD v2: 7-100231014-G-GC
• gnomAD v4: 7-100633391-G-GC
• MyVariant Identifiers: chr7:g.100231015_100231016insC (hg19) ; chr7:g.100633392_100633393insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633397dup , CM000669.2:g.100633397dup	GRCh38
NC_000007.13:g.100231020dup , CM000669.1:g.100231020dup	GRCh37
NC_000007.12:g.100068956dup	NCBI36
NG_007989.1:g.13159dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.614+24dup MANE Select	ENSP00000223051.3:n.614+24dup
ENST00000223051.7:c.614+24dup	ENSP00000223051.3:n.614+24dup
ENST00000431692.5:c.614+24dup	ENSP00000413905.1:n.614+24dup
ENST00000462107.1:c.614+24dup	ENSP00000420525.1:n.614+24dup
ENST00000465294.5:n.619+24dup
ENST00000473374.5:n.13dup
ENST00000473571.1:n.17dup
ENST00000475011.1:n.143+24dup
ENST00000476304.5:n.235+24dup
NM_001206855.1:c.101+24dup	NP_001193784.1:n.101+24dup
NM_003227.3:c.614+24dup	NP_003218.2:n.614+24dup
XM_005250553.3:c.614+24dup	XP_005250610.1:n.614+24dup
XM_005250554.3:c.614+24dup	XP_005250611.1:n.614+24dup
NM_001206855.2:c.101+24dup	NP_001193784.1:n.101+24dup
XM_005250553.4:c.614+24dup	XP_005250610.1:n.614+24dup
XM_017012573.1:c.614+24dup	XP_016868062.1:n.614+24dup
NM_003227.4:c.614+24dup MANE Select	NP_003218.2:n.614+24dup
NM_001206855.3:c.101+24dup	NP_001193784.1:n.101+24dup