Canonical Allele Identifier: CA2622601335
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371175_32371176insAAAAATG , CM000675.2:g.32371175_32371176insAAAAATG GRCh38
NC_000013.10:g.32945312_32945313insAAAAATG , CM000675.1:g.32945312_32945313insAAAAATG GRCh37
NC_000013.9:g.31843312_31843313insAAAAATG NCBI36
NG_012772.3:g.60696_60697insAAAAATG , LRG_293:g.60696_60697insAAAAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8632+75_8632+76insAAAAATG ENSP00000434898.2:n.8632+75_8632+76insAAAAATG
ENST00000528762.2:c.8632+75_8632+76insAAAAATG ENSP00000433168.2:n.8632+75_8632+76insAAAAATG
ENST00000530893.7:c.8263+75_8263+76insAAAAATG ENSP00000499438.2:n.8263+75_8263+76insAAAAATG
ENST00000665585.2:c.8632+75_8632+76insAAAAATG ENSP00000499570.2:n.8632+75_8632+76insAAAAATG
ENST00000666593.2:c.8632+75_8632+76insAAAAATG ENSP00000499256.2:n.8632+75_8632+76insAAAAATG
ENST00000700202.2:c.8632+75_8632+76insAAAAATG ENSP00000514856.2:n.8632+75_8632+76insAAAAATG
ENST00000700202.1:c.1099+75_1099+76insAAAAATG ENSP00000514856.1:n.1099+75_1099+76insAAAAATG
ENST00000380152.8:c.8632+75_8632+76insAAAAATG MANE Select ENSP00000369497.3:n.8632+75_8632+76insAAAAATG
ENST00000544455.6:c.8632+75_8632+76insAAAAATG ENSP00000439902.1:n.8632+75_8632+76insAAAAATG
ENST00000614259.2:c.8640+75_8640+76insAAAAATG ENSP00000506251.1:n.8640+75_8640+76insAAAAATG
ENST00000665585.1:c.1197+75_1197+76insAAAAATG
ENST00000680887.1:c.8632+75_8632+76insAAAAATG ENSP00000505508.1:n.8632+75_8632+76insAAAAATG
ENST00000380152.7:c.8632+75_8632+76insAAAAATG ENSP00000369497.3:n.8632+75_8632+76insAAAAATG
ENST00000528762.1:c.130+75_130+76insAAAAATG ENSP00000433168.1:n.130+75_130+76insAAAAATG
ENST00000544455.5:c.8632+75_8632+76insAAAAATG ENSP00000439902.1:n.8632+75_8632+76insAAAAATG
NM_000059.3:c.8632+75_8632+76insAAAAATG , LRG_293t1:c.8632+75_8632+76insAAAAATG NP_000050.2:n.8632+75_8632+76insAAAAATG
XM_011535203.1:c.8632+75_8632+76insAAAAATG XP_011533505.1:n.8632+75_8632+76insAAAAATG
XM_011535204.1:c.8536+75_8536+76insAAAAATG XP_011533506.1:n.8536+75_8536+76insAAAAATG
XM_011535205.1:c.8632+75_8632+76insAAAAATG XP_011533507.1:n.8632+75_8632+76insAAAAATG
NM_000059.4:c.8632+75_8632+76insAAAAATG MANE Select NP_000050.3:n.8632+75_8632+76insAAAAATG