Canonical Allele Identifier: CA387776385

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823666
• ClinVar RCV Id: RCV001020092
• dbSNP Id: rs80358579
• MyVariant Identifiers: chr13:g.32911854C>T (hg19) ; chr13:g.32337717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337717C>T , CM000675.2:g.32337717C>T	GRCh38
NC_000013.10:g.32911854C>T , CM000675.1:g.32911854C>T	GRCh37
NC_000013.9:g.31809854C>T	NCBI36
NG_012772.3:g.27238C>T , LRG_293:g.27238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3362C>T	ENSP00000434898.2:p.Ser1121Leu
ENST00000528762.2:c.3362C>T	ENSP00000433168.2:p.Ser1121Leu
ENST00000530893.7:c.2993C>T	ENSP00000499438.2:p.Ser998Leu
ENST00000665585.2:c.3362C>T	ENSP00000499570.2:p.Ser1121Leu
ENST00000666593.2:c.3362C>T	ENSP00000499256.2:p.Ser1121Leu
ENST00000700202.2:c.3362C>T	ENSP00000514856.2:p.Ser1121Leu
ENST00000380152.8:c.3362C>T MANE Select	ENSP00000369497.3:p.Ser1121Leu
ENST00000544455.6:c.3362C>T	ENSP00000439902.1:p.Ser1121Leu
ENST00000614259.2:c.3362C>T	ENSP00000506251.1:p.Ser1121Leu
ENST00000680887.1:c.3362C>T	ENSP00000505508.1:p.Ser1121Leu
ENST00000380152.7:c.3362C>T	ENSP00000369497.3:p.Ser1121Leu
ENST00000544455.5:c.3362C>T	ENSP00000439902.1:p.Ser1121Leu
ENST00000614259.1:n.3362C>T
NM_000059.3:c.3362C>T , LRG_293t1:c.3362C>T	NP_000050.2:p.Ser1121Leu
XM_011535203.1:c.3362C>T	XP_011533505.1:p.Ser1121Leu
XM_011535204.1:c.3362C>T	XP_011533506.1:p.Ser1121Leu
XM_011535205.1:c.3362C>T	XP_011533507.1:p.Ser1121Leu
NM_000059.4:c.3362C>T MANE Select	NP_000050.3:p.Ser1121Leu