Canonical Allele Identifier: CA387757559

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359157
• MyVariant Identifiers: chr13:g.32953992C>A (hg19) ; chr13:g.32379855C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379855C>A , CM000675.2:g.32379855C>A	GRCh38
NC_000013.10:g.32953992C>A , CM000675.1:g.32953992C>A	GRCh37
NC_000013.9:g.31851992C>A	NCBI36
NG_012772.3:g.69376C>A , LRG_293:g.69376C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9059C>A	ENSP00000434898.2:p.Ser3020Tyr
ENST00000528762.2:c.*426C>A	ENSP00000433168.2:n.*426C>A
ENST00000530893.7:c.8690C>A	ENSP00000499438.2:p.Ser2897Tyr
ENST00000665585.2:c.*621C>A	ENSP00000499570.2:n.*621C>A
ENST00000666593.2:c.9059C>A	ENSP00000499256.2:p.Ser3020Tyr
ENST00000700202.2:c.9008C>A	ENSP00000514856.2:p.Ser3003Tyr
ENST00000700202.1:c.1475C>A	ENSP00000514856.1:p.Ser492Tyr
ENST00000700203.1:n.1186C>A
ENST00000380152.8:c.9059C>A MANE Select	ENSP00000369497.3:p.Ser3020Tyr
ENST00000544455.6:c.9059C>A	ENSP00000439902.1:p.Ser3020Tyr
ENST00000614259.2:c.9067C>A	ENSP00000506251.1:n.9067C>A
ENST00000665585.1:c.1937C>A
ENST00000680887.1:c.9059C>A	ENSP00000505508.1:p.Ser3020Tyr
ENST00000380152.7:c.9059C>A	ENSP00000369497.3:p.Ser3020Tyr
ENST00000470094.1:c.16C>A
ENST00000544455.5:c.9059C>A	ENSP00000439902.1:p.Ser3020Tyr
NM_000059.3:c.9059C>A , LRG_293t1:c.9059C>A	NP_000050.2:p.Ser3020Tyr
XM_011535203.1:c.9059C>A	XP_011533505.1:p.Ser3020Tyr
XM_011535204.1:c.8963C>A	XP_011533506.1:p.Ser2988Tyr
NM_000059.4:c.9059C>A MANE Select	NP_000050.3:p.Ser3020Tyr