Canonical Allele Identifier: CA11686056
Gene: APBB2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17443013

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41133527T>C , CM000666.2:g.41133527T>C GRCh38
NC_000004.10:g.40830301T>C NCBI36
NC_000004.11:g.41135544T>C , CM000666.1:g.41135544T>C GRCh37
NG_013337.1:g.86092A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295974.12:c.-261+9460A>G ENSP00000295974.8:p.=
ENST00000502682.1:n.365+9460A>G
ENST00000503264.5:c.-145+9460A>G ENSP00000425202.1:p.=
ENST00000503503.5:c.-163+4515A>G ENSP00000421205.1:p.=
ENST00000503555.5:n.360+9460A>G
ENST00000506352.5:c.-261+9460A>G ENSP00000421539.1:p.=
ENST00000506999.5:n.321+9460A>G
ENST00000508593.5:c.-261+9460A>G ENSP00000427211.1:p.=
ENST00000508676.5:c.-163+9460A>G ENSP00000422723.1:p.=
ENST00000508707.5:c.-163+9460A>G ENSP00000424579.1:p.=
ENST00000509446.5:c.-243+9460A>G ENSP00000424414.1:p.=
ENST00000511572.5:n.321+9460A>G
ENST00000513140.5:c.-261+9460A>G ENSP00000426018.1:p.=
NM_001166050.1:c.-261+9460A>G NP_001159522.1:p.=
NM_004307.1:c.-261+9460A>G NP_004298.1:p.=
NM_173075.4:c.-261+9460A>G NP_775098.2:p.=
XM_005248101.2:c.-261+9460A>G XP_005248158.1:p.=
XM_006714005.2:c.-261+9460A>G XP_006714068.1:p.=
XM_006714006.2:c.-261+9460A>G XP_006714069.1:p.=
XM_006714007.2:c.-261+9460A>G XP_006714070.1:p.=
XM_006714008.2:c.-163+9460A>G XP_006714071.1:p.=
XM_006714009.2:c.-163+9460A>G XP_006714072.1:p.=
XM_006714010.2:c.-261+9460A>G XP_006714073.1:p.=
XM_006714011.2:c.-261+9460A>G XP_006714074.1:p.=
XM_006714012.2:c.-261+9460A>G XP_006714075.1:p.=
XM_011513686.1:c.-378+9460A>G XP_011511988.1:p.=
XM_011513687.1:c.-261+9460A>G XP_011511989.1:p.=
XM_011513688.1:c.-261+9460A>G XP_011511990.1:p.=