Canonical Allele Identifier: CA247491169

Gene: BRCA2

Linked Data

• dbSNP Id: rs776411295
• gnomAD v3: 13-32377012-TATTA-T
• gnomAD v4: 13-32377012-TATTA-T
• MyVariant Identifiers: chr13:g.32951150_32951153del (hg19) ; chr13:g.32377013_32377016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32377018_32377021del , CM000675.2:g.32377018_32377021del	GRCh38
NC_000013.10:g.32951155_32951158del , CM000675.1:g.32951155_32951158del	GRCh37
NC_000013.9:g.31849155_31849158del	NCBI36
NG_012772.3:g.66539_66542del , LRG_293:g.66539_66542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8754+227_8754+230del	ENSP00000434898.2:n.8754+227_8754+230del
ENST00000528762.2:c.*121+227_*121+230del	ENSP00000433168.2:n.*121+227_*121+230del
ENST00000530893.7:c.8385+227_8385+230del	ENSP00000499438.2:n.8385+227_8385+230del
ENST00000665585.2:c.*316+227_*316+230del	ENSP00000499570.2:n.*316+227_*316+230del
ENST00000666593.2:c.8754+227_8754+230del	ENSP00000499256.2:n.8754+227_8754+230del
ENST00000700202.2:c.8754+227_8754+230del	ENSP00000514856.2:n.8754+227_8754+230del
ENST00000700202.1:c.1221+227_1221+230del	ENSP00000514856.1:n.1221+227_1221+230del
ENST00000700203.1:n.881+227_881+230del
ENST00000380152.8:c.8754+227_8754+230del MANE Select	ENSP00000369497.3:n.8754+227_8754+230del
ENST00000544455.6:c.8754+227_8754+230del	ENSP00000439902.1:n.8754+227_8754+230del
ENST00000614259.2:c.8762+227_8762+230del	ENSP00000506251.1:n.8762+227_8762+230del
ENST00000665585.1:c.1632+227_1632+230del
ENST00000680887.1:c.8754+227_8754+230del	ENSP00000505508.1:n.8754+227_8754+230del
ENST00000380152.7:c.8754+227_8754+230del	ENSP00000369497.3:n.8754+227_8754+230del
ENST00000528762.1:c.316+227_316+230del	ENSP00000433168.1:n.316+227_316+230del
ENST00000544455.5:c.8754+227_8754+230del	ENSP00000439902.1:n.8754+227_8754+230del
NM_000059.3:c.8754+227_8754+230del , LRG_293t1:c.8754+227_8754+230del	NP_000050.2:n.8754+227_8754+230del
XM_011535203.1:c.8754+227_8754+230del	XP_011533505.1:n.8754+227_8754+230del
XM_011535204.1:c.8658+227_8658+230del	XP_011533506.1:n.8658+227_8658+230del
XM_011535205.1:c.8754+227_8754+230del	XP_011533507.1:n.8754+227_8754+230del
NM_000059.4:c.8754+227_8754+230del MANE Select	NP_000050.3:n.8754+227_8754+230del