Canonical Allele Identifier: CA344707808
Community Standard Title: NM_001031685.3(TP53BP2):c.3034C>G (p.Gln1012Glu)
Gene: TP53BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.223789137G>C , CM000663.2:g.223789137G>C GRCh38
NC_000001.10:g.223976839G>C , CM000663.1:g.223976839G>C GRCh37
NC_000001.9:g.222043462G>C NCBI36
NG_029950.1:g.61836C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001031685.3:c.3034C>G MANE Select NP_001026855.2:p.Gln1012Glu
ENST00000343537.12:c.3034C>G MANE Select ENSP00000341957.7:p.Gln1012Glu
NM_001031685.2:c.3034C>G NP_001026855.2:p.Gln1012Glu
NM_005426.2:c.2647C>G NP_005417.1:p.Gln883Glu
NM_005426.3:c.2647C>G NP_005417.1:p.Gln883Glu
ENST00000343537.11:c.3034C>G ENSP00000341957.7:p.Gln1012Glu
ENST00000391878.6:c.2647C>G ENSP00000375750.2:p.Gln883Glu
ENST00000483398.5:c.1262C>G
ENST00000498843.5:n.2346C>G
XM_011544267.1:c.2833C>G XP_011542569.1:p.Gln945Glu
XM_011544268.1:c.2833C>G XP_011542570.1:p.Gln945Glu
XM_011544268.2:c.2833C>G XP_011542570.1:p.Gln945Glu
XM_011544269.1:c.2647C>G XP_011542571.1:p.Gln883Glu
XM_011544269.2:c.2647C>G XP_011542571.1:p.Gln883Glu
XM_011544270.1:c.2215C>G XP_011542572.1:p.Gln739Glu