Canonical Allele Identifier: CA10586594

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254629
• ClinVar RCV Id: RCV000241046
• dbSNP Id: rs886038188
• MyVariant Identifiers: chr13:g.32953891dupA (hg19) ; chr13:g.32379754dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379754dup , CM000675.2:g.32379754dup	GRCh38
NC_000013.10:g.32953891dup , CM000675.1:g.32953891dup	GRCh37
NC_000013.9:g.31851891dup	NCBI36
NG_012772.3:g.69275dup , LRG_293:g.69275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8958dup	ENSP00000434898.2:p.Leu2987ThrfsTer?
ENST00000528762.2:c.*325dup	ENSP00000433168.2:n.*325dup
ENST00000530893.7:c.8589dup	ENSP00000499438.2:p.Leu2864ThrfsTer?
ENST00000665585.2:c.*520dup	ENSP00000499570.2:n.*520dup
ENST00000666593.2:c.8958dup	ENSP00000499256.2:p.Leu2987ThrfsTer?
ENST00000700202.2:c.8954-47dup	ENSP00000514856.2:n.8954-47dup
ENST00000700202.1:c.1421-47dup	ENSP00000514856.1:n.1421-47dup
ENST00000700203.1:n.1085dup
ENST00000380152.8:c.8958dup MANE Select	ENSP00000369497.3:p.Leu2987ThrfsTer?
ENST00000544455.6:c.8958dup	ENSP00000439902.1:p.Leu2987ThrfsTer?
ENST00000614259.2:c.8966dup	ENSP00000506251.1:n.8966dup
ENST00000665585.1:c.1836dup
ENST00000680887.1:c.8958dup	ENSP00000505508.1:p.Leu2987ThrfsTer?
ENST00000380152.7:c.8958dup	ENSP00000369497.3:p.Leu2987ThrfsTer?
ENST00000544455.5:c.8958dup	ENSP00000439902.1:p.Leu2987ThrfsTer?
NM_000059.3:c.8958dup , LRG_293t1:c.8958dup	NP_000050.2:p.Leu2987ThrfsTer?
XM_011535203.1:c.8958dup	XP_011533505.1:p.Leu2987ThrfsTer?
XM_011535204.1:c.8862dup	XP_011533506.1:p.Leu2955ThrfsTer?
XM_011535205.1:c.8759dup	XP_011533507.1:p.Tyr2920Ter
NM_000059.4:c.8958dup MANE Select	NP_000050.3:p.Leu2987ThrfsTer?