Canonical Allele Identifier: CA2622601178

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32370610-ATTTGTTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370619_32370626del , CM000675.2:g.32370619_32370626del	GRCh38
NC_000013.10:g.32944756_32944763del , CM000675.1:g.32944756_32944763del	GRCh37
NC_000013.9:g.31842756_31842763del	NCBI36
NG_012772.3:g.60140_60147del , LRG_293:g.60140_60147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8487+62_8487+69del	ENSP00000434898.2:n.8487+62_8487+69del
ENST00000528762.2:c.8487+62_8487+69del	ENSP00000433168.2:n.8487+62_8487+69del
ENST00000530893.7:c.8118+62_8118+69del	ENSP00000499438.2:n.8118+62_8118+69del
ENST00000665585.2:c.8487+62_8487+69del	ENSP00000499570.2:n.8487+62_8487+69del
ENST00000666593.2:c.8487+62_8487+69del	ENSP00000499256.2:n.8487+62_8487+69del
ENST00000700202.2:c.8487+62_8487+69del	ENSP00000514856.2:n.8487+62_8487+69del
ENST00000700202.1:c.954+62_954+69del	ENSP00000514856.1:n.954+62_954+69del
ENST00000380152.8:c.8487+62_8487+69del MANE Select	ENSP00000369497.3:n.8487+62_8487+69del
ENST00000544455.6:c.8487+62_8487+69del	ENSP00000439902.1:n.8487+62_8487+69del
ENST00000614259.2:c.8495+62_8495+69del	ENSP00000506251.1:n.8495+62_8495+69del
ENST00000665585.1:c.1052+62_1052+69del
ENST00000680887.1:c.8487+62_8487+69del	ENSP00000505508.1:n.8487+62_8487+69del
ENST00000380152.7:c.8487+62_8487+69del	ENSP00000369497.3:n.8487+62_8487+69del
ENST00000544455.5:c.8487+62_8487+69del	ENSP00000439902.1:n.8487+62_8487+69del
NM_000059.3:c.8487+62_8487+69del , LRG_293t1:c.8487+62_8487+69del	NP_000050.2:n.8487+62_8487+69del
XM_011535203.1:c.8487+62_8487+69del	XP_011533505.1:n.8487+62_8487+69del
XM_011535204.1:c.8391+62_8391+69del	XP_011533506.1:n.8391+62_8391+69del
XM_011535205.1:c.8487+62_8487+69del	XP_011533507.1:n.8487+62_8487+69del
NM_000059.4:c.8487+62_8487+69del MANE Select	NP_000050.3:n.8487+62_8487+69del