Canonical Allele Identifier: CA2578963543

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633211-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633211C>A , CM000669.2:g.100633211C>A	GRCh38
NC_000007.13:g.100230834C>A , CM000669.1:g.100230834C>A	GRCh37
NC_000007.12:g.100068770C>A	NCBI36
NG_007989.1:g.13340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.726+18G>T MANE Select	ENSP00000223051.3:n.726+18G>T
ENST00000223051.7:c.726+18G>T	ENSP00000223051.3:n.726+18G>T
ENST00000431692.5:c.726+18G>T	ENSP00000413905.1:n.726+18G>T
ENST00000462107.1:c.726+18G>T	ENSP00000420525.1:n.726+18G>T
ENST00000465294.5:n.731+18G>T
ENST00000473374.5:n.176+18G>T
ENST00000473571.1:n.180+18G>T
ENST00000475011.1:n.255+18G>T
ENST00000476304.5:n.347+18G>T
NM_001206855.1:c.213+18G>T	NP_001193784.1:n.213+18G>T
NM_003227.3:c.726+18G>T	NP_003218.2:n.726+18G>T
XM_005250553.3:c.726+18G>T	XP_005250610.1:n.726+18G>T
XM_005250554.3:c.726+18G>T	XP_005250611.1:n.726+18G>T
NM_001206855.2:c.213+18G>T	NP_001193784.1:n.213+18G>T
XM_005250553.4:c.726+18G>T	XP_005250610.1:n.726+18G>T
XM_017012573.1:c.726+18G>T	XP_016868062.1:n.726+18G>T
NM_003227.4:c.726+18G>T MANE Select	NP_003218.2:n.726+18G>T
NM_001206855.3:c.213+18G>T	NP_001193784.1:n.213+18G>T