Canonical Allele Identifier: CA387754904

Gene: BRCA2

Linked Data

• COSMIC: COSM6239357 ; COSM6239358
• MyVariant Identifiers: chr13:g.32950884C>A (hg19) ; chr13:g.32376747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376747C>A , CM000675.2:g.32376747C>A	GRCh38
NC_000013.10:g.32950884C>A , CM000675.1:g.32950884C>A	GRCh37
NC_000013.9:g.31848884C>A	NCBI36
NG_012772.3:g.66268C>A , LRG_293:g.66268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8710C>A	ENSP00000434898.2:p.Leu2904Ile
ENST00000528762.2:c.*77C>A	ENSP00000433168.2:n.*77C>A
ENST00000530893.7:c.8341C>A	ENSP00000499438.2:p.Leu2781Ile
ENST00000665585.2:c.*272C>A	ENSP00000499570.2:n.*272C>A
ENST00000666593.2:c.8710C>A	ENSP00000499256.2:p.Leu2904Ile
ENST00000700202.2:c.8710C>A	ENSP00000514856.2:p.Leu2904Ile
ENST00000700202.1:c.1177C>A	ENSP00000514856.1:p.Leu393Ile
ENST00000700203.1:n.837C>A
ENST00000380152.8:c.8710C>A MANE Select	ENSP00000369497.3:p.Leu2904Ile
ENST00000544455.6:c.8710C>A	ENSP00000439902.1:p.Leu2904Ile
ENST00000614259.2:c.8718C>A	ENSP00000506251.1:n.8718C>A
ENST00000665585.1:c.1588C>A
ENST00000680887.1:c.8710C>A	ENSP00000505508.1:p.Leu2904Ile
ENST00000380152.7:c.8710C>A	ENSP00000369497.3:p.Leu2904Ile
ENST00000528762.1:c.272C>A	ENSP00000433168.1:n.272C>A
ENST00000544455.5:c.8710C>A	ENSP00000439902.1:p.Leu2904Ile
NM_000059.3:c.8710C>A , LRG_293t1:c.8710C>A	NP_000050.2:p.Leu2904Ile
XM_011535203.1:c.8710C>A	XP_011533505.1:p.Leu2904Ile
XM_011535204.1:c.8614C>A	XP_011533506.1:p.Leu2872Ile
XM_011535205.1:c.8710C>A	XP_011533507.1:p.Leu2904Ile
NM_000059.4:c.8710C>A MANE Select	NP_000050.3:p.Leu2904Ile