Canonical Allele Identifier: CA576714288

Gene: TFR2

Linked Data

• dbSNP Id: rs1425416592
• gnomAD v2: 7-100230574-G-C
• gnomAD v4: 7-100632951-G-C
• MyVariant Identifiers: chr7:g.100230574G>C (hg19) ; chr7:g.100632951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632951G>C , CM000669.2:g.100632951G>C	GRCh38
NC_000007.13:g.100230574G>C , CM000669.1:g.100230574G>C	GRCh37
NC_000007.12:g.100068510G>C	NCBI36
NG_007989.1:g.13600C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.849+50C>G MANE Select	ENSP00000223051.3:n.849+50C>G
ENST00000223051.7:c.849+50C>G	ENSP00000223051.3:n.849+50C>G
ENST00000431692.5:c.849+50C>G	ENSP00000413905.1:n.849+50C>G
ENST00000462090.5:n.90+50C>G
ENST00000462107.1:c.849+50C>G	ENSP00000420525.1:n.849+50C>G
ENST00000465294.5:n.854+50C>G
ENST00000473374.5:n.299+50C>G
ENST00000473571.1:n.303+50C>G
ENST00000475011.1:n.428C>G
ENST00000476304.5:n.470+50C>G
ENST00000490084.5:c.104+50C>G
NM_001206855.1:c.336+50C>G	NP_001193784.1:n.336+50C>G
NM_003227.3:c.849+50C>G	NP_003218.2:n.849+50C>G
XM_005250553.3:c.849+50C>G	XP_005250610.1:n.849+50C>G
XM_005250554.3:c.849+50C>G	XP_005250611.1:n.849+50C>G
XR_927814.1:n.532G>C
NM_001206855.2:c.336+50C>G	NP_001193784.1:n.336+50C>G
XM_005250553.4:c.849+50C>G	XP_005250610.1:n.849+50C>G
XM_017012573.1:c.849+50C>G	XP_016868062.1:n.849+50C>G
NM_003227.4:c.849+50C>G MANE Select	NP_003218.2:n.849+50C>G
NM_001206855.3:c.336+50C>G	NP_001193784.1:n.336+50C>G