Canonical Allele Identifier: CA456749835

Gene: TFR2

Linked Data

• dbSNP Id: rs780798756
• gnomAD v2: 7-100230648-C-G
• gnomAD v4: 7-100633025-C-G
• MyVariant Identifiers: chr7:g.100230648C>G (hg19) ; chr7:g.100633025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633025C>G , CM000669.2:g.100633025C>G	GRCh38
NC_000007.13:g.100230648C>G , CM000669.1:g.100230648C>G	GRCh37
NC_000007.12:g.100068584C>G	NCBI36
NG_007989.1:g.13526G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.825G>C MANE Select	ENSP00000223051.3:p.Val275=
ENST00000223051.7:c.825G>C	ENSP00000223051.3:p.Val275=
ENST00000431692.5:c.825G>C	ENSP00000413905.1:p.Val275=
ENST00000462090.5:n.66G>C
ENST00000462107.1:c.825G>C	ENSP00000420525.1:p.Val275=
ENST00000465294.5:n.830G>C
ENST00000473374.5:n.275G>C
ENST00000473571.1:n.279G>C
ENST00000475011.1:n.354G>C
ENST00000476304.5:n.446G>C
ENST00000490084.5:c.80G>C
NM_001206855.1:c.312G>C	NP_001193784.1:p.Val104=
NM_003227.3:c.825G>C	NP_003218.2:p.Val275=
XM_005250553.3:c.825G>C	XP_005250610.1:p.Val275=
XM_005250554.3:c.825G>C	XP_005250611.1:p.Val275=
NM_001206855.2:c.312G>C	NP_001193784.1:p.Val104=
XM_005250553.4:c.825G>C	XP_005250610.1:p.Val275=
XM_017012573.1:c.825G>C	XP_016868062.1:p.Val275=
NM_003227.4:c.825G>C MANE Select	NP_003218.2:p.Val275=
NM_001206855.3:c.312G>C	NP_001193784.1:p.Val104=