Canonical Allele Identifier: CA387765664

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137663473
• MyVariant Identifiers: chr13:g.32972399C>G (hg19) ; chr13:g.32398262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398262C>G , CM000675.2:g.32398262C>G	GRCh38
NC_000013.10:g.32972399C>G , CM000675.1:g.32972399C>G	GRCh37
NC_000013.9:g.31870399C>G	NCBI36
NG_012772.3:g.87783C>G , LRG_293:g.87783C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*272C>G	ENSP00000434898.2:n.*272C>G
ENST00000528762.2:c.*1116C>G	ENSP00000433168.2:n.*1116C>G
ENST00000530893.7:c.9380C>G	ENSP00000499438.2:p.Ser3127Ter
ENST00000665585.2:c.*1311C>G	ENSP00000499570.2:n.*1311C>G
ENST00000700202.2:c.9698C>G	ENSP00000514856.2:p.Ser3233Ter
ENST00000700202.1:c.2165C>G	ENSP00000514856.1:p.Ser722Ter
ENST00000700203.1:n.1876C>G
ENST00000380152.8:c.9749C>G MANE Select	ENSP00000369497.3:p.Ser3250Ter
ENST00000544455.6:c.9749C>G	ENSP00000439902.1:p.Ser3250Ter
ENST00000614259.2:c.9757C>G	ENSP00000506251.1:n.9757C>G
ENST00000680887.1:c.9749C>G	ENSP00000505508.1:p.Ser3250Ter
ENST00000380152.7:c.9749C>G	ENSP00000369497.3:p.Ser3250Ter
ENST00000470094.1:c.832C>G
ENST00000533776.1:n.337C>G
ENST00000544455.5:c.9749C>G	ENSP00000439902.1:p.Ser3250Ter
NM_000059.3:c.9749C>G , LRG_293t1:c.9749C>G	NP_000050.2:p.Ser3250Ter
XM_011535203.1:c.9749C>G	XP_011533505.1:p.Ser3250Ter
XM_011535204.1:c.9653C>G	XP_011533506.1:p.Ser3218Ter
NM_000059.4:c.9749C>G MANE Select	NP_000050.3:p.Ser3250Ter