Canonical Allele Identifier: CA658823621

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548368
• ClinVar RCV Id: RCV000661609 ; RCV002442384 ; RCV003472057
• dbSNP Id: rs1555288449
• MyVariant Identifiers: chr13:g.32953915_32953918dup (hg19) ; chr13:g.32379778_32379781dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379778_32379781dup , CM000675.2:g.32379778_32379781dup	GRCh38
NC_000013.10:g.32953915_32953918dup , CM000675.1:g.32953915_32953918dup	GRCh37
NC_000013.9:g.31851915_31851918dup	NCBI36
NG_012772.3:g.69299_69302dup , LRG_293:g.69299_69302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8982_8985dup	ENSP00000434898.2:p.Leu2996ArgfsTer23
ENST00000528762.2:c.*349_*352dup	ENSP00000433168.2:n.*349_*352dup
ENST00000530893.7:c.8613_8616dup	ENSP00000499438.2:p.Leu2873ArgfsTer23
ENST00000665585.2:c.*544_*547dup	ENSP00000499570.2:n.*544_*547dup
ENST00000666593.2:c.8982_8985dup	ENSP00000499256.2:p.Leu2996ArgfsTer23
ENST00000700202.2:c.8954-23_8954-20dup	ENSP00000514856.2:n.8954-23_8954-20dup
ENST00000700202.1:c.1421-23_1421-20dup	ENSP00000514856.1:n.1421-23_1421-20dup
ENST00000700203.1:n.1109_1112dup
ENST00000380152.8:c.8982_8985dup MANE Select	ENSP00000369497.3:p.Leu2996ArgfsTer23
ENST00000544455.6:c.8982_8985dup	ENSP00000439902.1:p.Leu2996ArgfsTer23
ENST00000614259.2:c.8990_8993dup	ENSP00000506251.1:n.8990_8993dup
ENST00000665585.1:c.1860_1863dup
ENST00000680887.1:c.8982_8985dup	ENSP00000505508.1:p.Leu2996ArgfsTer23
ENST00000380152.7:c.8982_8985dup	ENSP00000369497.3:p.Leu2996ArgfsTer23
ENST00000544455.5:c.8982_8985dup	ENSP00000439902.1:p.Leu2996ArgfsTer23
NM_000059.3:c.8982_8985dup , LRG_293t1:c.8982_8985dup	NP_000050.2:p.Leu2996ArgfsTer23
XM_011535203.1:c.8982_8985dup	XP_011533505.1:p.Leu2996ArgfsTer23
XM_011535204.1:c.8886_8889dup	XP_011533506.1:p.Leu2964ArgfsTer23
XM_011535205.1:c.*20_*23dup	XP_011533507.1:n.*20_*23dup
NM_000059.4:c.8982_8985dup MANE Select	NP_000050.3:p.Leu2996ArgfsTer23