Canonical Allele Identifier: CA576450418

Gene: TFR2

Linked Data

• dbSNP Id: rs1562837465
• gnomAD v2: 7-100224366-CGA-C
• gnomAD v4: 7-100626743-CGA-C
• MyVariant Identifiers: chr7:g.100224367_100224368del (hg19) ; chr7:g.100626744_100626745del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626745_100626746del , CM000669.2:g.100626745_100626746del	GRCh38
NC_000007.13:g.100224368_100224369del , CM000669.1:g.100224368_100224369del	GRCh37
NC_000007.12:g.100062304_100062305del	NCBI36
NG_007989.1:g.19806_19807del

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136+18_2136+19del MANE Select	ENSP00000223051.3:n.2136+18_2136+19del
ENST00000223051.7:c.2136+18_2136+19del	ENSP00000223051.3:n.2136+18_2136+19del
ENST00000431692.5:c.*811+18_*811+19del	ENSP00000413905.1:n.*811+18_*811+19del
ENST00000461176.1:n.500_501del
ENST00000462090.5:n.1172+18_1172+19del
ENST00000462107.1:c.2136+18_2136+19del	ENSP00000420525.1:n.2136+18_2136+19del
ENST00000465294.5:n.2056+18_2056+19del
ENST00000476304.5:n.1757+18_1757+19del
ENST00000490084.5:c.1489+18_1489+19del
NM_001206855.1:c.1623+18_1623+19del	NP_001193784.1:n.1623+18_1623+19del
NM_003227.3:c.2136+18_2136+19del	NP_003218.2:n.2136+18_2136+19del
XM_005250553.3:c.2136+18_2136+19del	XP_005250610.1:n.2136+18_2136+19del
XM_005250554.3:c.2136+18_2136+19del	XP_005250611.1:n.2136+18_2136+19del
XR_927814.1:n.433+4191_433+4192del
NM_001206855.2:c.1623+18_1623+19del	NP_001193784.1:n.1623+18_1623+19del
XM_005250553.4:c.2136+18_2136+19del	XP_005250610.1:n.2136+18_2136+19del
XM_017012573.1:c.2136+18_2136+19del	XP_016868062.1:n.2136+18_2136+19del
NM_003227.4:c.2136+18_2136+19del MANE Select	NP_003218.2:n.2136+18_2136+19del
NM_001206855.3:c.1623+18_1623+19del	NP_001193784.1:n.1623+18_1623+19del