Canonical Allele Identifier: CA387761144

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2749866
• ClinVar RCV Id: RCV003531155
• MyVariant Identifiers: chr13:g.32968928T>G (hg19) ; chr13:g.32394791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394791T>G , CM000675.2:g.32394791T>G	GRCh38
NC_000013.10:g.32968928T>G , CM000675.1:g.32968928T>G	GRCh37
NC_000013.9:g.31866928T>G	NCBI36
NG_012772.3:g.84312T>G , LRG_293:g.84312T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9359T>G	ENSP00000434898.2:p.Ile3120Ser
ENST00000528762.2:c.*726T>G	ENSP00000433168.2:n.*726T>G
ENST00000530893.7:c.8990T>G	ENSP00000499438.2:p.Ile2997Ser
ENST00000665585.2:c.*921T>G	ENSP00000499570.2:n.*921T>G
ENST00000666593.2:c.*204T>G	ENSP00000499256.2:n.*204T>G
ENST00000700202.2:c.9308T>G	ENSP00000514856.2:p.Ile3103Ser
ENST00000700202.1:c.1775T>G	ENSP00000514856.1:p.Ile592Ser
ENST00000700203.1:n.1486T>G
ENST00000380152.8:c.9359T>G MANE Select	ENSP00000369497.3:p.Ile3120Ser
ENST00000544455.6:c.9359T>G	ENSP00000439902.1:p.Ile3120Ser
ENST00000614259.2:c.9367T>G	ENSP00000506251.1:n.9367T>G
ENST00000665585.1:c.2237T>G
ENST00000666593.1:c.381T>G	ENSP00000499256.1:n.381T>G
ENST00000680887.1:c.9359T>G	ENSP00000505508.1:p.Ile3120Ser
ENST00000380152.7:c.9359T>G	ENSP00000369497.3:p.Ile3120Ser
ENST00000470094.1:c.316T>G
ENST00000544455.5:c.9359T>G	ENSP00000439902.1:p.Ile3120Ser
NM_000059.3:c.9359T>G , LRG_293t1:c.9359T>G	NP_000050.2:p.Ile3120Ser
XM_011535203.1:c.9359T>G	XP_011533505.1:p.Ile3120Ser
XM_011535204.1:c.9263T>G	XP_011533506.1:p.Ile3088Ser
NM_000059.4:c.9359T>G MANE Select	NP_000050.3:p.Ile3120Ser