Canonical Allele Identifier: CA10589514

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267104
• ClinVar RCV Id: RCV000256550
• dbSNP Id: rs886040789
• MyVariant Identifiers: chr13:g.32950884_32950885insAG (hg19) ; chr13:g.32376747_32376748insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376747_32376748insAG , CM000675.2:g.32376747_32376748insAG	GRCh38
NC_000013.10:g.32950884_32950885insAG , CM000675.1:g.32950884_32950885insAG	GRCh37
NC_000013.9:g.31848884_31848885insAG	NCBI36
NG_012772.3:g.66268_66269insAG , LRG_293:g.66268_66269insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8710_8711insAG	ENSP00000434898.2:p.Leu2904GlnfsTer6
ENST00000528762.2:c.*77_*78insAG	ENSP00000433168.2:n.*77_*78insAG
ENST00000530893.7:c.8341_8342insAG	ENSP00000499438.2:p.Leu2781GlnfsTer6
ENST00000665585.2:c.*272_*273insAG	ENSP00000499570.2:n.*272_*273insAG
ENST00000666593.2:c.8710_8711insAG	ENSP00000499256.2:p.Leu2904GlnfsTer6
ENST00000700202.2:c.8710_8711insAG	ENSP00000514856.2:p.Leu2904GlnfsTer6
ENST00000700202.1:c.1177_1178insAG	ENSP00000514856.1:p.Leu393GlnfsTer6
ENST00000700203.1:n.837_838insAG
ENST00000380152.8:c.8710_8711insAG MANE Select	ENSP00000369497.3:p.Leu2904GlnfsTer6
ENST00000544455.6:c.8710_8711insAG	ENSP00000439902.1:p.Leu2904GlnfsTer6
ENST00000614259.2:c.8718_8719insAG	ENSP00000506251.1:n.8718_8719insAG
ENST00000665585.1:c.1588_1589insAG
ENST00000680887.1:c.8710_8711insAG	ENSP00000505508.1:p.Leu2904GlnfsTer6
ENST00000380152.7:c.8710_8711insAG	ENSP00000369497.3:p.Leu2904GlnfsTer6
ENST00000528762.1:c.272_273insAG	ENSP00000433168.1:n.272_273insAG
ENST00000544455.5:c.8710_8711insAG	ENSP00000439902.1:p.Leu2904GlnfsTer6
NM_000059.3:c.8710_8711insAG , LRG_293t1:c.8710_8711insAG	NP_000050.2:p.Leu2904GlnfsTer6
XM_011535203.1:c.8710_8711insAG	XP_011533505.1:p.Leu2904GlnfsTer6
XM_011535204.1:c.8614_8615insAG	XP_011533506.1:p.Leu2872GlnfsTer6
XM_011535205.1:c.8710_8711insAG	XP_011533507.1:p.Leu2904GlnfsTer6
NM_000059.4:c.8710_8711insAG MANE Select	NP_000050.3:p.Leu2904GlnfsTer6