Canonical Allele Identifier: CA368534108

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100230730G>C (hg19) ; chr7:g.100633107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633107G>C , CM000669.2:g.100633107G>C	GRCh38
NC_000007.13:g.100230730G>C , CM000669.1:g.100230730G>C	GRCh37
NC_000007.12:g.100068666G>C	NCBI36
NG_007989.1:g.13444C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.743C>G MANE Select	ENSP00000223051.3:p.Ala248Gly
ENST00000223051.7:c.743C>G	ENSP00000223051.3:p.Ala248Gly
ENST00000431692.5:c.743C>G	ENSP00000413905.1:p.Ala248Gly
ENST00000462107.1:c.743C>G	ENSP00000420525.1:p.Ala248Gly
ENST00000465294.5:n.748C>G
ENST00000473374.5:n.193C>G
ENST00000473571.1:n.197C>G
ENST00000475011.1:n.272C>G
ENST00000476304.5:n.364C>G
NM_001206855.1:c.230C>G	NP_001193784.1:p.Ala77Gly
NM_003227.3:c.743C>G	NP_003218.2:p.Ala248Gly
XM_005250553.3:c.743C>G	XP_005250610.1:p.Ala248Gly
XM_005250554.3:c.743C>G	XP_005250611.1:p.Ala248Gly
NM_001206855.2:c.230C>G	NP_001193784.1:p.Ala77Gly
XM_005250553.4:c.743C>G	XP_005250610.1:p.Ala248Gly
XM_017012573.1:c.743C>G	XP_016868062.1:p.Ala248Gly
NM_003227.4:c.743C>G MANE Select	NP_003218.2:p.Ala248Gly
NM_001206855.3:c.230C>G	NP_001193784.1:p.Ala77Gly