Canonical Allele Identifier: CA1413185

Gene: TP53BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.223814261G>A , CM000663.2:g.223814261G>A	GRCh38
NC_000001.10:g.224001963G>A , CM000663.1:g.224001963G>A	GRCh37
NC_000001.9:g.222068586G>A	NCBI36
NG_029950.1:g.36712C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001031685.3:c.268C>T MANE Select	NP_001026855.2:p.Arg90Cys
ENST00000343537.12:c.268C>T MANE Select	ENSP00000341957.7:p.Arg90Cys
NM_001031685.2:c.268C>T	NP_001026855.2:p.Arg90Cys
NM_005426.2:c.-120C>T	NP_005417.1:n.-120C>T
NM_005426.3:c.-120C>T	NP_005417.1:n.-120C>T
ENST00000343537.11:c.268C>T	ENSP00000341957.7:p.Arg90Cys
ENST00000391878.6:c.-120C>T	ENSP00000375750.2:n.-120C>T
ENST00000465119.1:c.120C>T	ENSP00000418252.1:p.Asn40=
ENST00000472180.1:n.382C>T
ENST00000473135.5:n.426C>T
ENST00000494100.1:c.68C>T
ENST00000496282.5:n.161C>T
XM_011544267.1:c.67C>T	XP_011542569.1:p.Arg23Cys
XM_011544268.1:c.67C>T	XP_011542570.1:p.Arg23Cys
XM_011544268.2:c.67C>T	XP_011542570.1:p.Arg23Cys