Canonical Allele Identifier: CA2575387957

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32379774-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379774_32379775insTG , CM000675.2:g.32379774_32379775insTG	GRCh38
NC_000013.10:g.32953911_32953912insTG , CM000675.1:g.32953911_32953912insTG	GRCh37
NC_000013.9:g.31851911_31851912insTG	NCBI36
NG_012772.3:g.69295_69296insTG , LRG_293:g.69295_69296insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8978_8979insTG	ENSP00000434898.2:p.Ser2994AspfsTer8
ENST00000528762.2:c.*345_*346insTG	ENSP00000433168.2:n.*345_*346insTG
ENST00000530893.7:c.8609_8610insTG	ENSP00000499438.2:p.Ser2871AspfsTer8
ENST00000665585.2:c.*540_*541insTG	ENSP00000499570.2:n.*540_*541insTG
ENST00000666593.2:c.8978_8979insTG	ENSP00000499256.2:p.Ser2994AspfsTer8
ENST00000700202.2:c.8954-27_8954-26insTG	ENSP00000514856.2:n.8954-27_8954-26insTG
ENST00000700202.1:c.1421-27_1421-26insTG	ENSP00000514856.1:n.1421-27_1421-26insTG
ENST00000700203.1:n.1105_1106insTG
ENST00000380152.8:c.8978_8979insTG MANE Select	ENSP00000369497.3:p.Ser2994AspfsTer8
ENST00000544455.6:c.8978_8979insTG	ENSP00000439902.1:p.Ser2994AspfsTer8
ENST00000614259.2:c.8986_8987insTG	ENSP00000506251.1:n.8986_8987insTG
ENST00000665585.1:c.1856_1857insTG
ENST00000680887.1:c.8978_8979insTG	ENSP00000505508.1:p.Ser2994AspfsTer8
ENST00000380152.7:c.8978_8979insTG	ENSP00000369497.3:p.Ser2994AspfsTer8
ENST00000544455.5:c.8978_8979insTG	ENSP00000439902.1:p.Ser2994AspfsTer8
NM_000059.3:c.8978_8979insTG , LRG_293t1:c.8978_8979insTG	NP_000050.2:p.Ser2994AspfsTer8
XM_011535203.1:c.8978_8979insTG	XP_011533505.1:p.Ser2994AspfsTer8
XM_011535204.1:c.8882_8883insTG	XP_011533506.1:p.Ser2962AspfsTer8
XM_011535205.1:c.*16_*17insTG	XP_011533507.1:n.*16_*17insTG
NM_000059.4:c.8978_8979insTG MANE Select	NP_000050.3:p.Ser2994AspfsTer8