Canonical Allele Identifier: CA387765076

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137662551
• MyVariant Identifiers: chr13:g.32972302T>C (hg19) ; chr13:g.32398165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398165T>C , CM000675.2:g.32398165T>C	GRCh38
NC_000013.10:g.32972302T>C , CM000675.1:g.32972302T>C	GRCh37
NC_000013.9:g.31870302T>C	NCBI36
NG_012772.3:g.87686T>C , LRG_293:g.87686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*175T>C	ENSP00000434898.2:n.*175T>C
ENST00000528762.2:c.*1019T>C	ENSP00000433168.2:n.*1019T>C
ENST00000530893.7:c.9283T>C	ENSP00000499438.2:p.Ser3095Pro
ENST00000665585.2:c.*1214T>C	ENSP00000499570.2:n.*1214T>C
ENST00000700202.2:c.9601T>C	ENSP00000514856.2:p.Ser3201Pro
ENST00000700202.1:c.2068T>C	ENSP00000514856.1:p.Ser690Pro
ENST00000700203.1:n.1779T>C
ENST00000380152.8:c.9652T>C MANE Select	ENSP00000369497.3:p.Ser3218Pro
ENST00000544455.6:c.9652T>C	ENSP00000439902.1:p.Ser3218Pro
ENST00000614259.2:c.9660T>C	ENSP00000506251.1:n.9660T>C
ENST00000665585.1:c.2530T>C
ENST00000680887.1:c.9652T>C	ENSP00000505508.1:p.Ser3218Pro
ENST00000380152.7:c.9652T>C	ENSP00000369497.3:p.Ser3218Pro
ENST00000470094.1:c.735T>C
ENST00000533776.1:n.240T>C
ENST00000544455.5:c.9652T>C	ENSP00000439902.1:p.Ser3218Pro
NM_000059.3:c.9652T>C , LRG_293t1:c.9652T>C	NP_000050.2:p.Ser3218Pro
XM_011535203.1:c.9652T>C	XP_011533505.1:p.Ser3218Pro
XM_011535204.1:c.9556T>C	XP_011533506.1:p.Ser3186Pro
NM_000059.4:c.9652T>C MANE Select	NP_000050.3:p.Ser3218Pro