Canonical Allele Identifier: CA247475531

Gene: BRCA2

Linked Data

• dbSNP Id: rs994351727
• gnomAD v3: 13-32362964-T-C
• gnomAD v4: 13-32362964-T-C
• MyVariant Identifiers: chr13:g.32937101T>C (hg19) ; chr13:g.32362964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362964T>C , CM000675.2:g.32362964T>C	GRCh38
NC_000013.10:g.32937101T>C , CM000675.1:g.32937101T>C	GRCh37
NC_000013.9:g.31835101T>C	NCBI36
NG_012772.3:g.52485T>C , LRG_293:g.52485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7977-215T>C	ENSP00000434898.2:n.7977-215T>C
ENST00000528762.2:c.7977-215T>C	ENSP00000433168.2:n.7977-215T>C
ENST00000530893.7:c.7608-215T>C	ENSP00000499438.2:n.7608-215T>C
ENST00000665585.2:c.7977-215T>C	ENSP00000499570.2:n.7977-215T>C
ENST00000666593.2:c.7977-215T>C	ENSP00000499256.2:n.7977-215T>C
ENST00000700202.2:c.7977-215T>C	ENSP00000514856.2:n.7977-215T>C
ENST00000700202.1:c.444-215T>C	ENSP00000514856.1:n.444-215T>C
ENST00000380152.8:c.7977-215T>C MANE Select	ENSP00000369497.3:n.7977-215T>C
ENST00000544455.6:c.7977-215T>C	ENSP00000439902.1:n.7977-215T>C
ENST00000614259.2:c.7985-215T>C	ENSP00000506251.1:n.7985-215T>C
ENST00000665585.1:c.542-215T>C
ENST00000680887.1:c.7977-215T>C	ENSP00000505508.1:n.7977-215T>C
ENST00000380152.7:c.7977-215T>C	ENSP00000369497.3:n.7977-215T>C
ENST00000544455.5:c.7977-215T>C	ENSP00000439902.1:n.7977-215T>C
NM_000059.3:c.7977-215T>C , LRG_293t1:c.7977-215T>C	NP_000050.2:n.7977-215T>C
XM_011535203.1:c.7977-215T>C	XP_011533505.1:n.7977-215T>C
XM_011535204.1:c.7881-215T>C	XP_011533506.1:n.7881-215T>C
XM_011535205.1:c.7977-215T>C	XP_011533507.1:n.7977-215T>C
NM_000059.4:c.7977-215T>C MANE Select	NP_000050.3:n.7977-215T>C