Canonical Allele Identifier: CA697323218

Gene: BRCA2

Linked Data

• dbSNP Id: rs1244618188
• gnomAD v3: 13-32333471-AATCTTCAT-A
• gnomAD v4: 13-32333471-AATCTTCAT-A
• MyVariant Identifiers: chr13:g.32907609_32907616del (hg19) ; chr13:g.32333472_32333479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333477_32333484del , CM000675.2:g.32333477_32333484del	GRCh38
NC_000013.10:g.32907614_32907621del , CM000675.1:g.32907614_32907621del	GRCh37
NC_000013.9:g.31805614_31805621del	NCBI36
NG_012772.3:g.22998_23005del , LRG_293:g.22998_23005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1909+90_1909+97del	ENSP00000434898.2:n.1909+90_1909+97del
ENST00000528762.2:c.1909+90_1909+97del	ENSP00000433168.2:n.1909+90_1909+97del
ENST00000530893.7:c.1540+90_1540+97del	ENSP00000499438.2:n.1540+90_1540+97del
ENST00000665585.2:c.1909+90_1909+97del	ENSP00000499570.2:n.1909+90_1909+97del
ENST00000666593.2:c.1909+90_1909+97del	ENSP00000499256.2:n.1909+90_1909+97del
ENST00000700202.2:c.1909+90_1909+97del	ENSP00000514856.2:n.1909+90_1909+97del
ENST00000380152.8:c.1909+90_1909+97del MANE Select	ENSP00000369497.3:n.1909+90_1909+97del
ENST00000544455.6:c.1909+90_1909+97del	ENSP00000439902.1:n.1909+90_1909+97del
ENST00000614259.2:c.1909+90_1909+97del	ENSP00000506251.1:n.1909+90_1909+97del
ENST00000680887.1:c.1909+90_1909+97del	ENSP00000505508.1:n.1909+90_1909+97del
ENST00000380152.7:c.1909+90_1909+97del	ENSP00000369497.3:n.1909+90_1909+97del
ENST00000544455.5:c.1909+90_1909+97del	ENSP00000439902.1:n.1909+90_1909+97del
ENST00000614259.1:n.1909+90_1909+97del
NM_000059.3:c.1909+90_1909+97del , LRG_293t1:c.1909+90_1909+97del	NP_000050.2:n.1909+90_1909+97del
XM_011535203.1:c.1909+90_1909+97del	XP_011533505.1:n.1909+90_1909+97del
XM_011535204.1:c.1909+90_1909+97del	XP_011533506.1:n.1909+90_1909+97del
XM_011535205.1:c.1909+90_1909+97del	XP_011533507.1:n.1909+90_1909+97del
NM_000059.4:c.1909+90_1909+97del MANE Select	NP_000050.3:n.1909+90_1909+97del