Canonical Allele Identifier: CA954699916

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072902785
• gnomAD v3: 13-32379491-T-TTGG
• gnomAD v4: 13-32379491-T-TTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379491_32379492insTGG , CM000675.2:g.32379491_32379492insTGG	GRCh38
NC_000013.10:g.32953628_32953629insTGG , CM000675.1:g.32953628_32953629insTGG	GRCh37
NC_000013.9:g.31851628_31851629insTGG	NCBI36
NG_012772.3:g.69012_69013insTGG , LRG_293:g.69012_69013insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8929_8930insTGG	ENSP00000434898.2:p.Tyr2977delinsLeuAsp
ENST00000528762.2:c.*296_*297insTGG	ENSP00000433168.2:n.*296_*297insTGG
ENST00000530893.7:c.8560_8561insTGG	ENSP00000499438.2:p.Tyr2854delinsLeuAsp
ENST00000665585.2:c.*491_*492insTGG	ENSP00000499570.2:n.*491_*492insTGG
ENST00000666593.2:c.8929_8930insTGG	ENSP00000499256.2:p.Tyr2977delinsLeuAsp
ENST00000700202.2:c.8929_8930insTGG	ENSP00000514856.2:p.Tyr2977delinsLeuAsp
ENST00000700202.1:c.1396_1397insTGG	ENSP00000514856.1:p.Tyr466delinsLeuAsp
ENST00000700203.1:n.1056_1057insTGG
ENST00000380152.8:c.8929_8930insTGG MANE Select	ENSP00000369497.3:p.Tyr2977delinsLeuAsp
ENST00000544455.6:c.8929_8930insTGG	ENSP00000439902.1:p.Tyr2977delinsLeuAsp
ENST00000614259.2:c.8937_8938insTGG	ENSP00000506251.1:n.8937_8938insTGG
ENST00000665585.1:c.1807_1808insTGG
ENST00000680887.1:c.8929_8930insTGG	ENSP00000505508.1:p.Tyr2977delinsLeuAsp
ENST00000380152.7:c.8929_8930insTGG	ENSP00000369497.3:p.Tyr2977delinsLeuAsp
ENST00000528762.1:c.491_492insTGG	ENSP00000433168.1:n.491_492insTGG
ENST00000544455.5:c.8929_8930insTGG	ENSP00000439902.1:p.Tyr2977delinsLeuAsp
NM_000059.3:c.8929_8930insTGG , LRG_293t1:c.8929_8930insTGG	NP_000050.2:p.Tyr2977delinsLeuAsp
XM_011535203.1:c.8929_8930insTGG	XP_011533505.1:p.Tyr2977delinsLeuAsp
XM_011535204.1:c.8833_8834insTGG	XP_011533506.1:p.Tyr2945delinsLeuAsp
XM_011535205.1:c.8755-259_8755-258insTGG	XP_011533507.1:n.8755-259_8755-258insTGG
NM_000059.4:c.8929_8930insTGG MANE Select	NP_000050.3:p.Tyr2977delinsLeuAsp