Canonical Allele Identifier: CA387767961

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2134402
• ClinVar RCV Id: RCV003058110
• gnomAD v4: 13-32398603-T-C
• MyVariant Identifiers: chr13:g.32972740T>C (hg19) ; chr13:g.32398603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398603T>C , CM000675.2:g.32398603T>C	GRCh38
NC_000013.10:g.32972740T>C , CM000675.1:g.32972740T>C	GRCh37
NC_000013.9:g.31870740T>C	NCBI36
NG_012772.3:g.88124T>C , LRG_293:g.88124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*613T>C	ENSP00000434898.2:n.*613T>C
ENST00000528762.2:c.*1457T>C	ENSP00000433168.2:n.*1457T>C
ENST00000530893.7:c.9721T>C	ENSP00000499438.2:p.Ser3241Pro
ENST00000665585.2:c.*1652T>C	ENSP00000499570.2:n.*1652T>C
ENST00000700202.2:c.10039T>C	ENSP00000514856.2:p.Ser3347Pro
ENST00000700202.1:c.2506T>C	ENSP00000514856.1:p.Ser836Pro
ENST00000700203.1:n.2217T>C
ENST00000380152.8:c.10090T>C MANE Select	ENSP00000369497.3:p.Ser3364Pro
ENST00000544455.6:c.10090T>C	ENSP00000439902.1:p.Ser3364Pro
ENST00000614259.2:c.10098T>C	ENSP00000506251.1:n.10098T>C
ENST00000680887.1:c.10090T>C	ENSP00000505508.1:p.Ser3364Pro
ENST00000380152.7:c.10090T>C	ENSP00000369497.3:p.Ser3364Pro
ENST00000544455.5:c.10090T>C	ENSP00000439902.1:p.Ser3364Pro
NM_000059.3:c.10090T>C , LRG_293t1:c.10090T>C	NP_000050.2:p.Ser3364Pro
XM_011535203.1:c.10090T>C	XP_011533505.1:p.Ser3364Pro
XM_011535204.1:c.9994T>C	XP_011533506.1:p.Ser3332Pro
NM_000059.4:c.10090T>C MANE Select	NP_000050.3:p.Ser3364Pro