Canonical Allele Identifier: CA163282639

Gene: TFR2

Linked Data

• dbSNP Id: rs969620250
• gnomAD v2: 7-100230815-CCG-C
• gnomAD v4: 7-100633192-CCG-C
• MyVariant Identifiers: chr7:g.100230816_100230817del (hg19) ; chr7:g.100633193_100633194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633196_100633197del , CM000669.2:g.100633196_100633197del	GRCh38
NC_000007.13:g.100230819_100230820del , CM000669.1:g.100230819_100230820del	GRCh37
NC_000007.12:g.100068755_100068756del	NCBI36
NG_007989.1:g.13357_13358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.726+35_726+36del MANE Select	ENSP00000223051.3:n.726+35_726+36del
ENST00000223051.7:c.726+35_726+36del	ENSP00000223051.3:n.726+35_726+36del
ENST00000431692.5:c.726+35_726+36del	ENSP00000413905.1:n.726+35_726+36del
ENST00000462107.1:c.726+35_726+36del	ENSP00000420525.1:n.726+35_726+36del
ENST00000465294.5:n.731+35_731+36del
ENST00000473374.5:n.176+35_176+36del
ENST00000473571.1:n.180+35_180+36del
ENST00000475011.1:n.255+35_255+36del
ENST00000476304.5:n.347+35_347+36del
NM_001206855.1:c.213+35_213+36del	NP_001193784.1:n.213+35_213+36del
NM_003227.3:c.726+35_726+36del	NP_003218.2:n.726+35_726+36del
XM_005250553.3:c.726+35_726+36del	XP_005250610.1:n.726+35_726+36del
XM_005250554.3:c.726+35_726+36del	XP_005250611.1:n.726+35_726+36del
NM_001206855.2:c.213+35_213+36del	NP_001193784.1:n.213+35_213+36del
XM_005250553.4:c.726+35_726+36del	XP_005250610.1:n.726+35_726+36del
XM_017012573.1:c.726+35_726+36del	XP_016868062.1:n.726+35_726+36del
NM_003227.4:c.726+35_726+36del MANE Select	NP_003218.2:n.726+35_726+36del
NM_001206855.3:c.213+35_213+36del	NP_001193784.1:n.213+35_213+36del