Canonical Allele Identifier: CA576714378

Gene: TFR2

Linked Data

• dbSNP Id: rs1325440290
• gnomAD v2: 7-100231023-CCG-C
• gnomAD v4: 7-100633400-CCG-C
• MyVariant Identifiers: chr7:g.100231024_100231025del (hg19) ; chr7:g.100633401_100633402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633408_100633409del , CM000669.2:g.100633408_100633409del	GRCh38
NC_000007.13:g.100231031_100231032del , CM000669.1:g.100231031_100231032del	GRCh37
NC_000007.12:g.100068967_100068968del	NCBI36
NG_007989.1:g.13149_13150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.614+14_614+15del MANE Select	ENSP00000223051.3:n.614+14_614+15del
ENST00000223051.7:c.614+14_614+15del	ENSP00000223051.3:n.614+14_614+15del
ENST00000431692.5:c.614+14_614+15del	ENSP00000413905.1:n.614+14_614+15del
ENST00000462107.1:c.614+14_614+15del	ENSP00000420525.1:n.614+14_614+15del
ENST00000465294.5:n.619+14_619+15del
ENST00000475011.1:n.143+14_143+15del
ENST00000476304.5:n.235+14_235+15del
NM_001206855.1:c.101+14_101+15del	NP_001193784.1:n.101+14_101+15del
NM_003227.3:c.614+14_614+15del	NP_003218.2:n.614+14_614+15del
XM_005250553.3:c.614+14_614+15del	XP_005250610.1:n.614+14_614+15del
XM_005250554.3:c.614+14_614+15del	XP_005250611.1:n.614+14_614+15del
NM_001206855.2:c.101+14_101+15del	NP_001193784.1:n.101+14_101+15del
XM_005250553.4:c.614+14_614+15del	XP_005250610.1:n.614+14_614+15del
XM_017012573.1:c.614+14_614+15del	XP_016868062.1:n.614+14_614+15del
NM_003227.4:c.614+14_614+15del MANE Select	NP_003218.2:n.614+14_614+15del
NM_001206855.3:c.101+14_101+15del	NP_001193784.1:n.101+14_101+15del