Canonical Allele Identifier: CA830498795

Gene: TFR2

Linked Data

• dbSNP Id: rs1365668550
• MyVariant Identifiers: chr7:g.100219719_100219720insGCTCACT (hg19) ; chr7:g.100622096_100622097insGCTCACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100622099_100622105dup , CM000669.2:g.100622099_100622105dup	GRCh38
NC_000007.13:g.100219722_100219728dup , CM000669.1:g.100219722_100219728dup	GRCh37
NC_000007.12:g.100057658_100057664dup	NCBI36
NG_007989.1:g.24448_24454dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2137-977_2137-971dup MANE Select	ENSP00000223051.3:n.2137-977_2137-971dup
ENST00000223051.7:c.2137-977_2137-971dup	ENSP00000223051.3:n.2137-977_2137-971dup
ENST00000431692.5:c.*812-977_*812-971dup	ENSP00000413905.1:n.*812-977_*812-971dup
ENST00000462090.5:n.1173-977_1173-971dup
ENST00000462107.1:c.2137-977_2137-971dup	ENSP00000420525.1:n.2137-977_2137-971dup
ENST00000465294.5:n.2057-977_2057-971dup
ENST00000476304.5:n.1758-977_1758-971dup
ENST00000490084.5:c.1490-977_1490-971dup
NM_001206855.1:c.1624-977_1624-971dup	NP_001193784.1:n.1624-977_1624-971dup
NM_003227.3:c.2137-977_2137-971dup	NP_003218.2:n.2137-977_2137-971dup
XM_005250553.3:c.2137-977_2137-971dup	XP_005250610.1:n.2137-977_2137-971dup
NM_001206855.2:c.1624-977_1624-971dup	NP_001193784.1:n.1624-977_1624-971dup
XM_005250553.4:c.2137-977_2137-971dup	XP_005250610.1:n.2137-977_2137-971dup
XM_017012573.1:c.2137-977_2137-971dup	XP_016868062.1:n.2137-977_2137-971dup
NM_003227.4:c.2137-977_2137-971dup MANE Select	NP_003218.2:n.2137-977_2137-971dup
NM_001206855.3:c.1624-977_1624-971dup	NP_001193784.1:n.1624-977_1624-971dup