Canonical Allele Identifier: CA830498806

Gene: TFR2

Linked Data

• dbSNP Id: rs1216183517
• MyVariant Identifiers: chr7:g.100219830_100219831insA (hg19) ; chr7:g.100622207_100622208insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100622208dup , CM000669.2:g.100622208dup	GRCh38
NC_000007.13:g.100219831dup , CM000669.1:g.100219831dup	GRCh37
NC_000007.12:g.100057767dup	NCBI36
NG_007989.1:g.24343dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2137-1082dup MANE Select	ENSP00000223051.3:n.2137-1082dup
ENST00000223051.7:c.2137-1082dup	ENSP00000223051.3:n.2137-1082dup
ENST00000431692.5:c.*812-1082dup	ENSP00000413905.1:n.*812-1082dup
ENST00000462090.5:n.1173-1082dup
ENST00000462107.1:c.2137-1082dup	ENSP00000420525.1:n.2137-1082dup
ENST00000465294.5:n.2057-1082dup
ENST00000476304.5:n.1758-1082dup
ENST00000490084.5:c.1490-1082dup
NM_001206855.1:c.1624-1082dup	NP_001193784.1:n.1624-1082dup
NM_003227.3:c.2137-1082dup	NP_003218.2:n.2137-1082dup
XM_005250553.3:c.2137-1082dup	XP_005250610.1:n.2137-1082dup
XR_927814.1:n.87dup
NM_001206855.2:c.1624-1082dup	NP_001193784.1:n.1624-1082dup
XM_005250553.4:c.2137-1082dup	XP_005250610.1:n.2137-1082dup
XM_017012573.1:c.2137-1082dup	XP_016868062.1:n.2137-1082dup
NM_003227.4:c.2137-1082dup MANE Select	NP_003218.2:n.2137-1082dup
NM_001206855.3:c.1624-1082dup	NP_001193784.1:n.1624-1082dup