Canonical Allele Identifier: CA387765136

Gene: BRCA2

Linked Data

• dbSNP Id: rs2073049142
• MyVariant Identifiers: chr13:g.32972314T>A (hg19) ; chr13:g.32398177T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398177T>A , CM000675.2:g.32398177T>A	GRCh38
NC_000013.10:g.32972314T>A , CM000675.1:g.32972314T>A	GRCh37
NC_000013.9:g.31870314T>A	NCBI36
NG_012772.3:g.87698T>A , LRG_293:g.87698T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*187T>A	ENSP00000434898.2:n.*187T>A
ENST00000528762.2:c.*1031T>A	ENSP00000433168.2:n.*1031T>A
ENST00000530893.7:c.9295T>A	ENSP00000499438.2:p.Cys3099Ser
ENST00000665585.2:c.*1226T>A	ENSP00000499570.2:n.*1226T>A
ENST00000700202.2:c.9613T>A	ENSP00000514856.2:p.Cys3205Ser
ENST00000700202.1:c.2080T>A	ENSP00000514856.1:p.Cys694Ser
ENST00000700203.1:n.1791T>A
ENST00000380152.8:c.9664T>A MANE Select	ENSP00000369497.3:p.Cys3222Ser
ENST00000544455.6:c.9664T>A	ENSP00000439902.1:p.Cys3222Ser
ENST00000614259.2:c.9672T>A	ENSP00000506251.1:n.9672T>A
ENST00000665585.1:c.2542T>A
ENST00000680887.1:c.9664T>A	ENSP00000505508.1:p.Cys3222Ser
ENST00000380152.7:c.9664T>A	ENSP00000369497.3:p.Cys3222Ser
ENST00000470094.1:c.747T>A
ENST00000533776.1:n.252T>A
ENST00000544455.5:c.9664T>A	ENSP00000439902.1:p.Cys3222Ser
NM_000059.3:c.9664T>A , LRG_293t1:c.9664T>A	NP_000050.2:p.Cys3222Ser
XM_011535203.1:c.9664T>A	XP_011533505.1:p.Cys3222Ser
XM_011535204.1:c.9568T>A	XP_011533506.1:p.Cys3190Ser
NM_000059.4:c.9664T>A MANE Select	NP_000050.3:p.Cys3222Ser